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
preweaning lethality, complete penetrance Tcf7l2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
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
increased bone mineral content Tcf7l2tm1a(EUCOMM)Wtsi HET Early adult 6.31×10-06
increased red blood cell distribution width Tcf7l2tm1a(EUCOMM)Wtsi HET Early adult 3.58×10-07
increased mean platelet volume Tcf7l2tm1a(EUCOMM)Wtsi HET Early adult 4.66×10-06
decreased total body fat amount Tcf7l2tm1a(EUCOMM)Wtsi HET   Early adult 1.64×10-05

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 Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

DSS Histology

Images

8 Images

Ear epidermis immunophenotyping

Images

3 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
Insulin resistance, Type II diabetes mellitus OMIM:125853
Non-Specific Syndromic Intellectual Disability
Decreased body weight, Precocious puberty, Impaired tandem gait 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
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
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
Type I diabetes mellitus, 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
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity, Increas... ORPHA:71529
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
Short Stature Due To Ghsr Deficiency
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... ORPHA:314811
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276580
Buschke-Ollendorff Syndrome
Joint stiffness, Connective tissue nevi, Flexion contracture, Osteopoikilosis OMIM:166700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276575
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Hyperinsulinemia OMIM:618406
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... ORPHA:300385
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... ORPHA:276556
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Protracted diarrhea, Death in infancy, Abnormal intestine morphology OMIM:251850
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Lactose Intolerance, Adult Type
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223100
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity ORPHA:369873
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... OMIM:612567
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Hirschsprung Disease, Susceptibility To, 1
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Multiple lipomas, Osteopoikilosis ORPHA:1879
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Abnormal e... OMIM:614963
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Polyphagia, Insulin resistance, Obesity OMIM:617885
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Failure to thrive, Progressive cerebellar ataxia ORPHA:67046
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Ataxia, Hypogonadism, Central hypothyroidism OMIM:616113
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis OMIM:613960
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Obesity, Polyphagia, Large for gestational age OMIM:248100
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Temple Syndrome
Type II diabetes mellitus, Precocious puberty, Decreased response to growth hormone stimulation t... ORPHA:254516
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Growth Hormone Deficiency, Isolated Partial
Decreased response to growth hormone stimulation test, Small pituitary gland OMIM:615925
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Small pituitary gland, Cleft palate OMIM:614880
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Jejunal Atresia
Jejunal atresia OMIM:243600
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism, Obesity OMIM:614962
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Panhypopituitarism, Anterior hypopituitarism, Increased circulating pro... ORPHA:91351
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Failure to thrive, Unsteady gait OMIM:610090
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli... ORPHA:181393
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Enterocolitis, Abdominal pain OMIM:260005
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... ORPHA:70482
Melorheostosis
Failure to thrive, Joint stiffness, Increased bone mineral density, Arthritis, Atypical scarring ... ORPHA:2485
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Refrac... OMIM:231095
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy OMIM:232700
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Intractable diarrhea OMIM:613217
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... ORPHA:91350
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Vomiting, Nausea, Abnormal small intestinal mucosa morphology, Chronic diarrhea, D... ORPHA:103907
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea OMIM:613291
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Decreased serum insulin-like growth factor 1, Decreased response t... OMIM:618157
Slc35A1-Cdg
Cellulitis, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting OMIM:615863
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
High palate, Hypogonadotropic hypogonadism, Cryptorchidism, Small pituitary gland OMIM:612702
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... ORPHA:552
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Vomiting, Villous atrophy, Secretory diarrhea, Micro... OMIM:619445
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Thyroid Hormone Metabolism, Abnormal, 1
Hypothyroidism, Decreased circulating free T3, Elevated circulating thyroid-stimulating hormone c... OMIM:609698
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Bardet-Biedl Syndrome 9
Polydipsia, Truncal obesity, Polyphagia, Obesity, Hyperglycemia OMIM:615986
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Abnormal esophagus physiology, Dysphagia, Gastroint... ORPHA:2198
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia OMIM:615085
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Abnormal hypo... ORPHA:54595
Mehmo Syndrome
Inability to walk, Decreased response to growth hormone stimulation test, Small for gestational a... OMIM:300148
Myh9-Related Disease
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... ORPHA:182050
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Primary adrenal insufficiency, Failure to thrive, Hypogonadism OMIM:617872
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Congenital Short Bowel Syndrome
Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomiting, Abnormal peristalsi... OMIM:615237
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, H... ORPHA:453533
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Polyp... OMIM:275000
Flynn-Aird Syndrome
Increased bone density with cystic changes, Joint stiffness, Osteoporosis, Increased bone mineral... OMIM:136300
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Secondary Short Bowel Syndrome
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... ORPHA:95427
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... ORPHA:231720
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Splenomegaly, Small for gestational age, Anisocytosis, Schistocy... OMIM:224120
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Lactase Deficiency, Congenital
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223000
Huntington Disease
Gait imbalance, Inability to walk, Bradykinesia, Decreased body mass index, Gait disturbance, Pol... ORPHA:399
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... OMIM:606407
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Patent ductus arteriosus, Pyloric stenosis ORPHA:2978
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Failure to thrive, Small for gestational age OMIM:614702
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Small for gestational age ORPHA:231147
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Obesity, Polyphagia, Ataxia ORPHA:411515
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Immunodeficiency 31C
Villous atrophy, Diarrhea, Abnormal intestine morphology OMIM:614162
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Decreased body weight, Neonatal hypoglycemia, Small for gestational age ORPHA:231140
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria, Lethargy ORPHA:2089
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Anterior hypopituitarism, Decreased response to growth hormone stimulati... OMIM:221750
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly ORPHA:2204
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Pituicytoma
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... ORPHA:251623
Vascular Hyalinosis
Malabsorption, Diarrhea, Protein-losing enteropathy, Hematochezia OMIM:277175
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity ORPHA:177910
Tsh-Secreting Pituitary Adenoma
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Enlarged pituitary gl... ORPHA:91347
Pelger-Huet Anomaly
Failure to thrive, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant plate... OMIM:169400
Meningioma
Enlarged pituitary gland, Decreased serum testosterone concentration, Reduced circulating prolact... ORPHA:2495
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia, Gait ataxia, Unsteady gait OMIM:618158
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Lethargy ORPHA:26792
Glucocorticoid Deficiency 1
Failure to thrive, Decreased circulating cortisol level, Increased circulating ACTH level, Abnorm... OMIM:202200
Panhypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95513
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Riboflavin Deficiency
Hypoglycemia, Lethargy OMIM:615026
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Arthritis, Impaired platelet aggregatio... OMIM:210250
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Failure to thrive ORPHA:67048
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Ataxia, Lethargy OMIM:246900
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Increased mitochondrial number OMIM:619063
Alpha-Heavy Chain Disease
Malabsorption, Abnormality of the small intestine ORPHA:100025
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
6Q16 Microdeletion Syndrome
Broad-based gait, Obesity, Polyphagia ORPHA:171829
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Schnitzler Syndrome
Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia ORPHA:37748
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... OMIM:300635
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95512
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Lethargy OMIM:610006
Atresia Of Small Intestine
Intestinal malrotation, Intestinal hypoplasia, Vomiting, Jejunal atresia ORPHA:1201
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Failure to thrive OMIM:617156
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Gait disturbance, Inability to walk, Athetosis OMIM:618241
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Schaaf-Yang Syndrome
Inability to walk, Flexion contracture, Camptodactyly, Polyphagia, Arthrogryposis multiplex conge... OMIM:615547
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia OMIM:616521
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Failure to thrive, Precocious puberty, Congenital hypothyroidism OMIM:614736
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Lethargy OMIM:212140
2P21 Microdeletion Syndrome
Hypoglycemia, Failure to thrive, Hypogonadism ORPHA:163693
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytosis, Anemia, Th... OMIM:611490
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Failure to thrive, Hypoglycemia OMIM:618958
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Hypoglycemia, Adrenocortical hypoplasia, Lethargy OMIM:307030
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia OMIM:124900
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Extramedullar... OMIM:259710
Immunodeficiency, Common Variable, 11
Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea OMIM:615767
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Splenomegaly,... OMIM:259700
Colonic Atresia
Colonic atresia OMIM:303650
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Failure to thrive OMIM:617950
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption, Diarrhea OMIM:600955
Orotic Aciduria
Hypochromia, Failure to thrive, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocy... OMIM:258900
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Failure to thrive, Flexion contracture, Camptodactyly OMIM:604273
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Type I diabete... OMIM:618549
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... ORPHA:26790
Eosinophilic Gastroenteritis
Malabsorption, Steatorrhea, Diarrhea, Abnormality of the gastrointestinal tract, Vomiting, Hemato... ORPHA:2070
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Ankle flexion contracture, Gait imbalance, Lethargy OMIM:618120
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... OMIM:604367
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance OMIM:610947
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Failure to thrive OMIM:619048
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Increased bone mineral density, Osteoporosis, Umbilical hernia, Joint hype... OMIM:614856
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... ORPHA:398079
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Dysmetria, Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia ORPHA:48431
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Death in childhood, Diarrhea, Neonatal death, Death in infancy, Jejunal atresia, Microcolon, Volv... OMIM:609313
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased bone mineral density, Leukocytosis, Congenital hypopl... ORPHA:77297
Blue Diaper Syndrome
Decreased circulating T4 concentration, Increased body weight, Elevated circulating thyroid-stimu... ORPHA:94086
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death OMIM:612138
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia, Failure to thrive, Ataxia, Lethargy ORPHA:2394
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98754
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... ORPHA:263455
Immunodeficiency 70
Colitis, Recurrent sinusitis, Furuncle, Achalasia, Celiac disease OMIM:618969
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabsorption, Chronic diarrhea ORPHA:309108
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98793
Mitochondrial Complex I Deficiency, Nuclear Type 33
Dysphagia, Hypoglycemia OMIM:618253
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Failure to thrive ORPHA:289504
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis, Skin rash, Anterior uveitis OMIM:616744
Immunodeficiency 14B, Autosomal Recessive
Colitis, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, Chronic d... OMIM:619281
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177904
Cog2-Cdg
Small pituitary gland ORPHA:435934
Pituitary Stalk Interruption Syndrome
Failure to thrive, Abnormality of the hypothalamus-pituitary axis, Hypoglycemia, Adrenal hypoplas... ORPHA:95496
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177901
Pick Disease Of Brain
Polyphagia OMIM:172700
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Culler-Jones Syndrome
Cleft palate, Hypopituitarism, Ectopic posterior pituitary, Hypogonadism, Cryptorchidism, Anterio... OMIM:615849
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Arthritis, Acne, Sterile arthritis OMIM:604416
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Villous atrophy, Bloody diarrhea OMIM:614328
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age OMIM:615160
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:613038
Trigonocephaly 1
Meckel diverticulum OMIM:190440
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Diabetes in... OMIM:182230
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Protein-losing enteropathy, Hematochezia ORPHA:103910
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... OMIM:300888
Propionic Acidemia
Hypoglycemia ORPHA:35
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Failure to thrive, Unsteady gait ORPHA:79096
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Failure to thrive, Delayed puberty ORPHA:369
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Failure to thrive, Ataxia, Hyperglycemia OMIM:220111
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, H... ORPHA:79237
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism OMIM:301033
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Death in childhood, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy OMIM:602579
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... ORPHA:71275
Prader-Willi-Like Syndrome
Failure to thrive, Abnormality of the endocrine system, Precocious puberty, Decreased circulating... ORPHA:398073
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Weight loss, Hypoinsulinemia ORPHA:2126
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Abno... OMIM:612840
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Failure to thrive, Inability to walk OMIM:614739
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
Microvillus Inclusion Disease
Villous atrophy, Diarrhea, Abnormality of small intestinal villus morphology ORPHA:2290
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Intestinal malrotation, Vomiting, Colonic diverticula, Intestinal pseudo-obstruction, Functional ... OMIM:243180
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Lethargy, Adrenal insufficiency OMIM:619386
Hsd10 Mitochondrial Disease
Hypoglycemia, Choreoathetosis OMIM:300438
Frontotemporal Dementia
Polyphagia OMIM:600274
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Oste... ORPHA:53
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Perianal abscess, Bronchiect... OMIM:618108
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Man1B1-Cdg
Broad-based gait, Polyphagia, Truncal obesity ORPHA:397941
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
X-Linked Sideroblastic Anemia
Glucose intolerance, Elevated hepatic transaminase ORPHA:75563
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Colitis, Eczema, Diarrhea, Inflammation of the large intestine, Arthritis, Dys... OMIM:608809
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Flexion cont... ORPHA:398069
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Dec... OMIM:608594
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Chronic diarrhea, Ulcerative colitis, Bronchiectasis OMIM:618394
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Diabetes Mellitus, Permanent Neonatal, 3
Small for gestational age, Glycosuria, Athetosis, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Small for gestational age ORPHA:231137
Pediatric-Onset Graves Disease
Failure to thrive, Polydipsia, Graves disease, Increased circulating free T3, Increased circulati... ORPHA:525731
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Meningocele, Duodenal stenosis ORPHA:1759
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... ORPHA:95619
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Camurati-Engelmann Disease
Slender build, Reduced subcutaneous adipose tissue, Sclerosis of skull base, Cortical thickening ... OMIM:131300
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia, Diabetes mellitus, Hypergly... OMIM:609069
Infantile Liver Failure Syndrome 2
Hypoglycemia, Lethargy OMIM:616483
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty ORPHA:633
Cog8-Cdg
Hypoglycemia, Failure to thrive, Ataxia ORPHA:95428
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Failure to thrive, Lethargy OMIM:210200
Lathosterolosis
Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, Acanthocytosis, Schistocytosis, Increased ... OMIM:607330
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Colitis, Diarrhea, Villous atrophy, Chronic diarrhea OMIM:614602
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Cachexia, Hypoglycemia, Distal arthrogryposis, Lethargy ORPHA:42
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia, Inguinal hernia, Camptodactyly OMIM:616737
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hypoglycemia, Failure to thrive, Ataxia OMIM:256810
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... ORPHA:2298
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Congenital Disorder Of Glycosylation, Type Ih
Diarrhea, Neonatal death, Vomiting, Patent ductus arteriosus, Protein-losing enteropathy, Death i... OMIM:608104
Esophagitis, Eosinophilic, 2
Dysphagia, Vomiting, Esophagitis OMIM:613412
Esophagitis, Eosinophilic, 1
Dysphagia, Vomiting, Esophagitis OMIM:610247
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Decreased body weight, Small for gestational age, Hypoglycemia, Hypothyroidism,... ORPHA:391408
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Stercoral ulcer, Hematochezia, Intermittent diarrhea, Re... ORPHA:209964
Gaucher Disease Type 1
Increased bone mineral density, Splenomegaly, Osteopenia, Leukopenia, Osteoarthritis, Pathologic ... ORPHA:77259
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... OMIM:269700
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Episodic vomiting, Secretory diarrhea, Enterocolitis OMIM:616050
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypoketotic hypoglycemia, Failure to thrive ORPHA:5
Ane Syndrome
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... ORPHA:157954
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... ORPHA:274
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
2Q23.1 Microdeletion Syndrome
Polyphagia, Ataxia ORPHA:228402
Fg Syndrome Type 1
High palate, Anal atresia, Malrotation of colon, Gastroesophageal reflux, Small pituitary gland, ... ORPHA:93932
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity ORPHA:791
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy OMIM:618154
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Death in childhood, Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Intestinal malrotation, Abnormality of the gastrointestinal tract, Hypoperistalsi... ORPHA:2241
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Central adrenal insufficiency, Small pi... ORPHA:739
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Failure to thrive, Ataxia OMIM:619046
Visceral Myopathy 1
Constipation, Diarrhea, Vomiting, Dysphagia, Megaduodenum, Intestinal pseudo-obstruction, Microco... OMIM:155310
Acth Deficiency, Isolated
Fasting hypoglycemia, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency, Decreased circu... OMIM:201400
Stuve-Wiedemann Syndrome 2
Dysphagia, Stillbirth, Neonatal death, Death in adolescence OMIM:619751
Alg1-Cdg
Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Chronic diarrhea ORPHA:79327
Fanconi Anemia, Complementation Group O
Anal atresia, Miscarriage, Neonatal death, Death in infancy, Cryptorchidism, Rectal atresia OMIM:613390
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Diarrhea, Vomiting, Hematochezia, Glossitis, Protein-losing enteropath... OMIM:175500
Septo-Optic Dysplasia Spectrum
Cleft palate, Tracheoesophageal fistula, Abnormality of the hypothalamus-pituitary axis, Maternal... ORPHA:3157
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Small for gestational age, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli... ORPHA:73272
Glycogen Storage Disease Iii
Hypoglycemia OMIM:232400
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Pancr... OMIM:246200
Ganglioneuroma
Multiple intestinal neurofibromatosis, Abnormal rectum morphology, Colorectal polyposis, Gastroin... ORPHA:251992
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration... ORPHA:2088
Thrombocytopenia 1
Joint hemorrhage, Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean plat... OMIM:313900
Hemochromatosis, Type 4
Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... OMIM:606069
Maple Syrup Urine Disease
Hypoglycemia, Ataxia, Lethargy OMIM:248600
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting ORPHA:79319
Classic Galactosemia
Gait imbalance, Ataxia, Hypoglycemia, Gait disturbance, Delayed puberty, Decreased serum insulin-... ORPHA:79239
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Feeding difficulti... ORPHA:411696
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance OMIM:144600
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Mungan Syndrome
Barrett esophagus, Hypoperistalsis, Megaduodenum, Intestinal pseudo-obstruction, Gastroparesis OMIM:611376
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Lethargy ORPHA:156
Non-Acquired Panhypopituitarism
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:90695
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death, Esophageal stenosis OMIM:619817
Netherton Syndrome
Villous atrophy, Intestinal atresia, Abnormal intestine morphology OMIM:256500
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Ata... ORPHA:363400
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Colonic diverticula OMIM:223330
Martinez-Frias Syndrome
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... OMIM:601346
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity ORPHA:3085
Glutaric Acidemia I
Hypoglycemia, Failure to thrive, Choreoathetosis OMIM:231670
Paget Disease Of Bone 3
Patchy osteosclerosis, Osteolysis, Fractures of the long bones OMIM:167250
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Intestinal polyp, Diar... ORPHA:263665
Congenital Disorder Of Glycosylation, Type Id
High palate, Diarrhea, Vomiting, Bifid uvula, Villous atrophy OMIM:601110
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro... ORPHA:199296
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Lethargy OMIM:615751
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis OMIM:614878
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Anteriorly placed anus, Dysphagia, Central diabetes... ORPHA:280195
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Prader-Willi Syndrome
Adrenal insufficiency, Abdominal obesity, Hyperinsulinemia, Type II diabetes mellitus, Precocious... OMIM:176270
Hemochromatosis, Neonatal
Hypoglycemia OMIM:231100
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Anemia, Cr... OMIM:259730
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Lethargy OMIM:600649