Gene: Ptf1a MGI:1328312

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

pancreas specific transcription factor, 1a

Synonyms:

bHLHa29, PTF1-p48

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ptf1a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Ptf1a (3 diseases)
Human diseases predicted to be associated with Ptf1a (558 diseases)

The table below shows human diseases associated to Ptf1a by orthology or direct annotation.

Disease	Matching phenotypes	Source
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Cerebellar hypoplasia, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Pancreatic Agenesis 2	Pancreatic hypoplasia, Small for gestational age	OMIM:615935
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Deat...	OMIM:609069

The table below shows human diseases predicted to be associated to Ptf1a by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp...	OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Enlarged tonsils, Increased hepatic glycogen content, Hypoketotic hypoglycemia, Truncal obesity, ...	ORPHA:293964
Pancreatic Agenesis 1	Failure to thrive, Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitu...	OMIM:260370
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Cerebellar hypoplasia, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,...	OMIM:610021
Retinoschisis, Autosomal Dominant	Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis	OMIM:180270
Stargardt Disease 1	Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration	OMIM:248200
Macular Degeneration, Age-Related, 13	Macular scar, Choroidal neovascularization, Macular degeneration, Drusen	OMIM:615439
Exudative Vitreoretinopathy 7	Retinal degeneration, Vitreoretinopathy, Retinal hole	OMIM:617572
X-Linked Retinal Dysplasia	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia	ORPHA:1852
Retinitis Pigmentosa 36	Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor...	OMIM:610599
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Large for gestational age, Truncal obesity	OMIM:240900
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Decreased body weight, Abnormality of body weight	ORPHA:314811
Microphthalmia, Isolated, With Coloboma 6	Coloboma, Hypoplasia of the fovea, Optic disc hypoplasia	OMIM:613703
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Failure to thrive, Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoglycemia, Death ...	OMIM:617156
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Cone-Rod Dystrophy 5	Macular degeneration	OMIM:600977
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Leber Congenital Amaurosis 19	Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration	OMIM:618513
Glycogen Storage Disease Vi	Hypoglycemia, Increased hepatic glycogen content, Hepatomegaly, Failure to thrive in infancy	OMIM:232700
Exudative Vitreoretinopathy 3	Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate	OMIM:605750
Mody	Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly...	ORPHA:552
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Hepatomegaly	OMIM:615158
Pancreatic Agenesis 2	Pancreatic hypoplasia, Small for gestational age	OMIM:615935
Pancreatic Agenesis-Holoprosencephaly Syndrome	Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Abse...	ORPHA:556955
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Retinal dysplasia	OMIM:615771
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy...	OMIM:312700
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen	Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy	OMIM:304030
Methemoglobinemia, Beta Type	Methemoglobinemia, Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia, Cyanosis	OMIM:617973
Cyanosis And Hepatic Disease	Hepatitis, Cyanosis	OMIM:219400
Sorsby Pseudoinflammatory Fundus Dystrophy	Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula...	ORPHA:59181
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Deat...	OMIM:609069
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia...	ORPHA:411593
Cyanosis, Transient Neonatal	Methemoglobinemia, Hepatomegaly, Anemia, Cyanosis, Reticulocytosis, Jaundice	OMIM:613977
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:609016
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis	OMIM:261650
3-Methylglutaconic Aciduria Type 1	Hypoglycemia, Failure to thrive, Hepatomegaly	ORPHA:67046
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo...	OMIM:256450
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr...	ORPHA:263458
Retinopathy, Pericentral Pigmentary, Dominant	Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret...	OMIM:180210
Liberfarb Syndrome	Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen...	OMIM:618889
Late-Onset Retinal Degeneration	Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy	OMIM:605670
Retinal Cone Dystrophy 1	Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy	OMIM:180020
Chorioretinal Atrophy, Progressive Bifocal	Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy	OMIM:600790
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit...	ORPHA:324575
Retinitis Pigmentosa 13	Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus	OMIM:600059
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration	OMIM:617879
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Lattice Degeneration Of Retina Leading To Retinal Detachment	Retinal detachment, Lattice retinal degeneration	OMIM:150500
Neonatal Hemochromatosis	Hypoglycemia, Prolonged neonatal jaundice, Congenital hepatic fibrosis	ORPHA:446
Familial Drusen	Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig...	ORPHA:75376
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Birdshot Chorioretinopathy	Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst...	ORPHA:179
Matthew-Wood Syndrome	Annular pancreas, Failure to thrive, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morpholo...	ORPHA:2470
17Q12 Microdeletion Syndrome	Pancreatic aplasia, Cryptorchidism, Diabetes mellitus	ORPHA:261265
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Retinitis Pigmentosa 70	Optic disc pallor, Retinal degeneration, Rod-cone dystrophy	OMIM:615922
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach...	OMIM:616468
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Iris coloboma, Macular atrophy, Chorioretinal coloboma	OMIM:212550
Macrophthalmia, Colobomatous, With Microcornea	Coloboma, Macular atrophy	OMIM:602499
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment	OMIM:614224
Hyperinsulinism Due To Glucokinase Deficiency	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper...	ORPHA:79299
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Hepatomegaly, Hypoglycemia, Pancytopenia, Hepatic steatosis	OMIM:617872
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Retinitis Pigmentosa 32	Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse...	OMIM:609913
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis	OMIM:302000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,...	ORPHA:276608
Retinitis Pigmentosa 50	Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt...	OMIM:613194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia, Obesity, Elevated circulating thyroid-stimulating hormone concentration	ORPHA:171706
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Macular Degeneration, Age-Related, 1	Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ...	OMIM:603075
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pan...	ORPHA:456312
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Irvan Syndrome	Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen...	ORPHA:209943
Cataract 21, Multiple Types	Iris coloboma, Retinal detachment, Macular hypoplasia	OMIM:610202
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas...	ORPHA:276580
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Failure to thrive, Hyperinsulinemia	OMIM:606528
Retinitis Pigmentosa 68	Retinal atrophy, Rod-cone dystrophy	OMIM:615725
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Failure to thrive, Anemia	OMIM:610090
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas...	ORPHA:276575
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Failure to thrive, Exocrine pancreatic insufficiency, Small for gestational age, Biliary atresia,...	ORPHA:2255
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi...	OMIM:615710
Hyperinsulinism Due To Ucp2 Deficiency	Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hy...	ORPHA:276556
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Growth Hormone Insensitivity Syndrome	Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I...	ORPHA:181393
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode	OMIM:610992
Cholesterol Pneumonia	Cyanosis, Death in infancy	OMIM:215030
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Retinal dysplasia, Coloboma	ORPHA:324416
Retinal Dystrophy And Obesity	Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy	OMIM:616188
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re...	OMIM:618144
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Hemochromatosis, Neonatal	Hepatocellular necrosis, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis, Prolonged neonat...	OMIM:231100
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Failure to thrive, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular ca...	ORPHA:369
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Breath-Holding Spells	Cyanosis, Iron deficiency anemia	OMIM:607578
Coats Disease	Abnormal macular morphology, Retinal detachment, Abnormal retinal vascular morphology	ORPHA:190
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia	ORPHA:366
Stickler Syndrome Type 2	Retinopathy, Retinal detachment, Abnormal vitreous humor morphology	ORPHA:90654
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Diffuse pancrea...	ORPHA:79644
Amyotrophic Lateral Sclerosis 16, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:614373
Endocardial Fibroelastosis	Hypoglycemia, Cryptorchidism, Anterior hypopituitarism	ORPHA:2022
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia	OMIM:616113
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia, Hepatic ste...	OMIM:261680
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal...	OMIM:305390
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Fasting ...	OMIM:613027
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Failure to thrive, Cyanosis	ORPHA:91130
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, H...	OMIM:262190
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly	ORPHA:664
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hypoglycemia, Failure to thrive, Hepatic steatosis, Hepatomegaly	OMIM:619048
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Coloboma	OMIM:274270
Vitreoretinal Degeneration, Snowflake Type	Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots	OMIM:193230
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Failure to thrive, Thrombocytopenia	ORPHA:67048
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Decreased body weight, Neonatal hypoglycemia, Small for gestational age	ORPHA:231140
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct...	OMIM:601346
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia	OMIM:614830
Mehmo Syndrome	Hypoglycemia, Obesity, Decreased response to growth hormone stimulation test, Small for gestation...	OMIM:300148
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Carnitine Deficiency, Systemic Primary	Failure to thrive, Hepatomegaly, Hypoglycemia, Decreased carnitine level in liver, Impaired gluco...	OMIM:212140
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Failure to thrive, Small for gestational age	OMIM:614702
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis	ORPHA:26792
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy	OMIM:614284
Acth Deficiency, Isolated	Fasting hypoglycemia, Adrenocorticotropic hormone deficiency, Jaundice, Cholestasis	OMIM:201400
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration	OMIM:614292
Microspherophakia With Hernia	Retinal detachment	OMIM:157150
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ...	OMIM:610199
Morning Glory Disc Anomaly	Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma	ORPHA:35737
Exudative Vitreoretinopathy 1	Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin...	OMIM:133780
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Hepatic steatosis, Pancreatitis, Death in infancy	OMIM:619386
Cholestasis With Gallstone, Ataxia, And Visual Disturbance	Cholelithiasis, Giant cell hepatitis, Retinal degeneration, Optic atrophy, Jaundice	OMIM:214980
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Failure to thrive, Premature skin wrinkling	OMIM:617950
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Cirrhosis, Macrovesicular hepa...	OMIM:256810
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Diabe...	ORPHA:93111
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia, Failure to thrive, Cryptorchidism, Hepatomegaly	OMIM:618958
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia, Small for gestational age	ORPHA:231147
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Cirrhosis, Hypoglycemia, Death in infancy, Jaundice	OMIM:617049
Vitreoretinopathy, Neovascular Inflammatory	Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy...	OMIM:193235
Joubert Syndrome 22	Retinal dysplasia, Coloboma	OMIM:615665
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Failure to thrive in infancy	ORPHA:6
Propionic Acidemia	Hypoglycemia, Hepatomegaly	ORPHA:35
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr...	OMIM:251880
Glycogen Storage Disease Ixa1	Hypoglycemia, Hepatomegaly, Splenomegaly	OMIM:306000
Joubert Syndrome 16	Retinal dystrophy, Coloboma	OMIM:614465
Obesity-Hypoventilation Syndrome	Obesity, Cyanosis	OMIM:257500
Insulinoma	Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Prima...	ORPHA:97279
Tropical Pancreatitis	Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-...	ORPHA:103918
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia, Hepatomegaly	OMIM:614741
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Splenomegaly, Macrocytic anemia, Death in infancy, Neonatal hypoglycemia	OMIM:619046
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Apnea, Central Sleep	Cyanosis	OMIM:207720
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Glycosuria, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasi...	ORPHA:99885
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:246900
Galactokinase Deficiency	Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hepatosplenomegaly,...	ORPHA:79237
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hypoglycemia, Failure to thrive, Cryptorchidism	OMIM:614736
Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increased hepatic glycogen content...	ORPHA:263455
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Coach Syndrome 2	Coloboma, Congenital hepatic fibrosis, Hepatic fibrosis, Portal fibrosis, Chorioretinal coloboma	OMIM:619111
Glycogen Storage Disease Iii	Hypoglycemia, Hepatic fibrosis, Hepatomegaly	OMIM:232400
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Spinocerebellar atrophy, Cerebellar atrophy	OMIM:215470
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Panhypopituitarism, Hypoglycemic seizures, Reduced circulating prolactin c...	OMIM:262600
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid...	OMIM:220111
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia	ORPHA:5
Temple Syndrome	Type II diabetes mellitus, Decreased response to growth hormone stimulation test, Small for gesta...	ORPHA:254516
Congenital Arthrogryposis With Anterior Horn Cell Disease	Cryptorchidism, Neonatal death, Paucity of anterior horn motor neurons, Abnormal anterior horn ce...	OMIM:611890
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Abnormal erythrocyte morphology	ORPHA:71277
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia	ORPHA:35878
Shwachman-Diamond Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Aplastic anemia, Macrocytic anemia, Pancreatic h...	ORPHA:811
Hereditary Methemoglobinemia	Methemoglobinemia, Cyanosis, Small for gestational age	ORPHA:621
Ectopia Lentis Et Pupillae	Retinal detachment	OMIM:225200
Neuralgic Amyotrophy	Acrocyanosis	ORPHA:2901
Pituitary Stalk Interruption Syndrome	Failure to thrive, Hypoglycemia, Ectopic posterior pituitary, Death in infancy, Cryptorchidism	ORPHA:95496
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Failure to thrive, Death in childhood, Neonatal death, Hypoglycemia, Death in infancy	OMIM:245400
Chronic Pneumonitis Of Infancy	Hypoxemia, Failure to thrive, Cyanosis, Mediastinal lymphadenopathy	ORPHA:91359
Congenital Pulmonary Lymphangiectasia	Cyanosis, Hepatomegaly, Splenomegaly	ORPHA:2414
Histiocytosis-Lymphadenopathy Plus Syndrome	Histiocytosis, Hepatomegaly, Decreased response to growth hormone stimulation test, Splenomegaly,...	OMIM:602782
Hypoadrenocorticism, Familial	Hypoglycemia, Cyanosis	OMIM:240200
Glycerol Kinase Deficiency	Hypoglycemia, Cryptorchidism, Small for gestational age	OMIM:307030
Interstitial Pneumonitis, Desquamative, Familial	Failure to thrive, Cyanosis	OMIM:263000
Congenital Isolated Acth Deficiency	Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice	ORPHA:199296
Shashi-Pena Syndrome	Hypoglycemia	OMIM:617190
2P21 Microdeletion Syndrome	Hypoglycemia, Failure to thrive	ORPHA:163693
Pyruvate Carboxylase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:266150
Combined Malonic And Methylmalonic Acidemia	Hypoglycemia, Failure to thrive	ORPHA:289504
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi...	OMIM:619418
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Pancreatitis, Hepatomegaly, Leukopenia, Hypoglycemia, Neutropenia, Thrombocyto...	OMIM:251000
Abruzzo-Erickson Syndrome	Coloboma, Iris coloboma, Cryptorchidism, Chorioretinal coloboma	ORPHA:921
Blue Diaper Syndrome	Recurrent hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Increased...	ORPHA:94086
Infantile Liver Failure Syndrome 2	Hypoglycemia, Jaundice	OMIM:616483
Dextrocardia	Pancreatic hypoplasia, Abnormality of abdominal situs, Abnormality of the spleen	ORPHA:1666
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Pyruvate Dehydrogenase E3 Deficiency	Hypoglycemia, Failure to thrive, Hepatomegaly	ORPHA:2394
Congenital Primary Aphakia	Retinal dysplasia	ORPHA:83461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Death in childhood, Retinal detachment, Coloboma	OMIM:613153
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia, Adrenal hyperplasia	OMIM:201910
Microphthalmia, Isolated 8	Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm	OMIM:615113
Congenital Fibrinogen Deficiency	Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Hemorrhagic ovarian cyst, Decreased t...	ORPHA:335
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Glycosuria, Polycystic ovaries, Increased body weight, Weight loss, Enlarged po...	ORPHA:2298
Encephalopathy, Ethylmalonic	Failure to thrive, Petechiae, Acrocyanosis, Death in infancy	OMIM:602473
Propionic Acidemia	Failure to thrive, Neutropenia, Pancreatitis, Hepatomegaly, Hypoglycemia, Pancytopenia, Anemia, T...	OMIM:606054
Donohue Syndrome	Postprandial hyperglycemia, Hyperinsulinemia, Severe failure to thrive, Ovarian cyst, Cholestasis...	OMIM:246200
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia	ORPHA:2089
Srd5A3-Cdg	Decreased response to growth hormone stimulation test, Rod-cone dystrophy, Coloboma, Optic atroph...	ORPHA:324737
Abcd Syndrome	Neonatal death, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Aganglionic ...	OMIM:600501
Laron Syndrome	Hypoglycemia, Prematurely aged appearance, Truncal obesity	ORPHA:633
Post-Traumatic Pituitary Deficiency	Abnormal prolactin level, Decreased response to growth hormone stimulation test, Panhypopituitari...	ORPHA:95619
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Polycystic ovaries, Increased body weig...	ORPHA:264580
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Cyanosis, Hypoxemia, Weight loss	ORPHA:1302
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hypoglycemia, Small for gestational age	OMIM:615160
Mitochondrial Complex I Deficiency, Nuclear Type 20	Microvesicular hepatic steatosis, Death in childhood, Hypoglycemia, Death in infancy, Thrombocyto...	OMIM:611126
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract	Iris coloboma, Retinal atrophy	OMIM:616722
Solitary Fibrous Tumor/Hemangiopericytoma	Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, Hypoglycemia, Recurrent hy...	ORPHA:2126
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Failure to thrive, Pyridoxine-responsive sideroblastic anemia	ORPHA:79096
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Anemia, Neonatal death, Death in infancy	OMIM:618835
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glycosuria, Neonatal death, Hypoglycemia, Hepatic periportal necrosis, Hepatic stea...	OMIM:231680
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Anemia, Neonatal death, Death in infancy	OMIM:618839
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology	OMIM:606353
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia, Small for gestational age	ORPHA:231137
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neonatal death, Neutropenia	OMIM:257100
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Failure to thrive, Small for gestational age, Death in childhood, Death in adolescence, Neonatal ...	OMIM:619055
Congenitally Uncorrected Transposition Of The Great Arteries	Failure to thrive, Hepatomegaly, Small for gestational age, Cyanosis, Maternal diabetes, Hypoxemia	ORPHA:860
Renal Cysts And Diabetes Syndrome	Glucose intolerance, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Gly...	OMIM:137920
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Glucose intolerance, Acrocyanosis, Failure to thrive, Impaired glucose tolerance	OMIM:614407
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Cyanosis, Polycythemia	OMIM:250800
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
Leukoencephalopathy With Dystonia And Motor Neuropathy	Abnormal motor neuron morphology	OMIM:613724
Surfactant Metabolism Dysfunction, Pulmonary, 1	Failure to thrive, Cyanosis, Neonatal death, Death in infancy	OMIM:265120
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:79159
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Cachexia, Hepatic steatosis, Hepatomegaly	ORPHA:42
Visceral Steatosis, Congenital	Hypoglycemia, Jaundice, Hepatic steatosis, Neonatal death	OMIM:228100
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Failure to thrive, Hepatomegaly, Increased hepatic glycogen content, ...	ORPHA:2088
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes mellitus	OMIM:616026
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Hypoglycemia, Acute hepatic steatosis, Failure to thrive	OMIM:210200
Classic Galactosemia	Hepatomegaly, Abnormal erythrocyte enzyme level, Hypoglycemia, Cryptorchidism, Jaundice	ORPHA:79239
Microphthalmia, Isolated 4	Absent testis, Coloboma	OMIM:613094
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Lethal Congenital Contracture Syndrome 1	Neonatal death, Paucity of anterior horn motor neurons	OMIM:253310
Cog8-Cdg	Hypoglycemia, Failure to thrive, Spontaneous hematomas	ORPHA:95428
Tricuspid Atresia	Cyanosis	ORPHA:1209
Sepsis In Premature Infants	Decreased body weight, Hepatomegaly, Petechiae, Leukocytosis, Splenomegaly, Small for gestational...	ORPHA:90051
Eosinophilic Fasciitis	Eosinophilia, Weight loss, Acrocyanosis, Abnormal eosinophil morphology	ORPHA:3165
Maple Syrup Urine Disease	Hypoglycemia, Pancreatitis	OMIM:248600
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Failure to thrive, Small for gestational age, Truncal obesity, Hypoglycemia, Insulin resistance	ORPHA:73272
Carnitine-Acylcarnitine Translocase Deficiency	Fasting hypoglycemia, Hypoketotic hypoglycemia, Cyanosis, Hepatomegaly	ORPHA:159
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia, Death in childhood, Anemia, Hepatomegaly	OMIM:246450
Mirage Syndrome	Decreased body weight, Lymphopenia, Cryptorchidism, Petechiae, Leukopenia, Hypoglycemia, Hypoplas...	OMIM:617053
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Decreased body weight, Small for gestational age, Hypoglycemia, Diabetes mellitus, Dorsocervical ...	ORPHA:391408
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures	OMIM:231530
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog...	ORPHA:364055
Buerger Disease	Acrocyanosis	ORPHA:36258
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia	ORPHA:48431
Multiple Endocrine Neoplasia, Type I	Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Hypogl...	OMIM:131100
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Hepatomegaly, Peritonitis, Erythema, Purpura, Lymphadenopathy, Acrocyanosis	ORPHA:343
Glutaric Acidemia I	Hypoglycemia, Failure to thrive, Hepatomegaly	OMIM:231670
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia, Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:600649
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Failure to thrive	OMIM:614739
Hsd10 Mitochondrial Disease	Hypoglycemia	OMIM:300438
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Polycystic ovaries, Hepatocellular c...	ORPHA:79240
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia, Hepatic steatosis, Hepatomegaly	OMIM:201450
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Retinal dystrophy, Coloboma, Ectopic posterior pituitary, Cryptorchidism	OMIM:610125
Smith-Kingsmore Syndrome	Hypoglycemia, Cryptorchidism, Thrombocytopenia, Large for gestational age	OMIM:616638
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Cyanosis	OMIM:250790
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia, Cryptorchidism, Prominent superficial veins, Small for gestational age	OMIM:616817
Ethylmalonic Encephalopathy	Failure to thrive, Petechiae, Acrocyanosis	ORPHA:51188
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Small for gestational age, Hepatocellular ...	OMIM:180860
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia, Hepatomegaly	ORPHA:156
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pallor of dorsal columns of t...	OMIM:602433
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Double Outlet Right Ventricle	Hypoparathyroidism, Failure to thrive, Aplasia/Hypoplasia of the thymus, Cyanosis	ORPHA:3426
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatocellular carc...	ORPHA:370
Motor Neuropathy, Peripheral, With Dysautonomia	Cyanosis	OMIM:252320
Coats Disease	Retinal telangiectasia, Exudative retinal detachment	OMIM:300216
Heart Defects, Congenital, And Other Congenital Anomalies	Failure to thrive, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Absent gallbladder, Diabet...	OMIM:600001
Hsd10 Disease, Infantile Type	Hypoglycemia, Cyanosis	ORPHA:391428
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Nonketotic hypoglycemia, Death in inf...	OMIM:201475
Afibrinogenemia, Congenital	Bruising susceptibility, Death in childhood, Death in adolescence, Neonatal death, Death in infan...	OMIM:202400
Autosomal Dominant Keratitis	Coloboma, Aniridia, Hypoplasia of the fovea, Macular hypoplasia	ORPHA:2334
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia	OMIM:618253
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline...	ORPHA:71212
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cryptorchidism, Severe failure to thrive, Cyanosis	ORPHA:3304
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia	ORPHA:364
African Iron Overload	Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,...	ORPHA:139507
Liver Disease, Severe Congenital	Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Pancreatic hypoplasia, Portal ...	OMIM:619991
Carnitine-Acylcarnitine Translocase Deficiency	Hypoglycemia, Hepatic steatosis, Hepatomegaly, Neonatal hypoglycemia	OMIM:212138
Acquired Methemoglobinemia	Methemoglobinemia, Cyanosis, Hypoxemia	ORPHA:464453
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Hypoinsulinemia, Hypoglycemia, Decreased testicular size, Anterior pit...	ORPHA:453533
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia, Failure to thrive, Decreased response to growth hormone stimulation test	OMIM:606407
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration, Coloboma	OMIM:615249
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosis	ORPHA:348
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Hypoglycemia, Adrenal hyperplasia, Jaundice, Macroorchidism	ORPHA:90790
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Pituitary adenoma,...	ORPHA:199299
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia, Decreased response to growth hormone stimulation test	ORPHA:436174
Glycogen Storage Disease Ib	Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Hypoglyc...	OMIM:232220
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Hepatomegaly, Splenomegaly, Hypoglycemia, Jaundice	OMIM:608779
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia, Cryptorchidism, Small for gestational age	ORPHA:397590
Carnitine Palmitoyltransferase I Deficiency	Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly	OMIM:255120
Marcus-Gunn Syndrome	Morning glory anomaly, Abnormal fifth cranial nerve morphology, Coloboma	ORPHA:91412
Primary Lateral Sclerosis	Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology	ORPHA:35689
Fucosidosis	Failure to thrive, Vascular skin abnormality, Hepatomegaly, Abnormality of the gallbladder, Acroc...	ORPHA:349
Asbestos Intoxication	Oxygen desaturation on exertion, Cyanosis, Mediastinal lymphadenopathy, Hypoxemia	ORPHA:2302
Shigellosis	Splenic abscess, Urticaria, Leukocytosis, Peritonitis, Cholestasis, Hypoglycemia, Purpura, Microa...	ORPHA:810
Nephrotic Syndrome, Type 14	Hypoglycemia, Cryptorchidism, Lymphopenia	OMIM:617575
Bachmann-Bupp Syndrome	Hypoglycemia, Cryptorchidism, Large for gestational age	OMIM:619075
Combined Oxidative Phosphorylation Defect Type 23	Failure to thrive, Cyanosis	ORPHA:444013
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Hepatic steatosis	ORPHA:52430
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia	OMIM:618120
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Diabetes mellitus, Pancre...	OMIM:167800
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation...	OMIM:208540
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Hypoglycemia, Thrombocytosis, Weight loss, Hyperglycemia	ORPHA:134
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Glucocorticoid Deficiency 1	Recurrent hypoglycemia, Failure to thrive	OMIM:202200
Primary Pulmonary Hypoplasia	Hypoxemia, Failure to thrive, Cyanosis	ORPHA:2257
Proprotein Convertase 1/3 Deficiency	Reactive hypoglycemia, Obesity	OMIM:600955
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Anemia	OMIM:618838
Perlman Syndrome	Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly	ORPHA:2849
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia, Failure to thrive, Cholestasis, Small for gestational age	OMIM:609015
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Failure to thrive, Hepatomegaly, Cryptorchidism, Severe B lymphocytopenia, B lymp...	ORPHA:83617
Congenital Tricuspid Valve Dysplasia	Hypoxemia, Cyanosis, Hepatomegaly, Small for gestational age	ORPHA:555874
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Surfactant Metabolism Dysfunction, Pulmonary, 3	Failure to thrive, Cyanosis, Neonatal death, Death in infancy, Hypoxemia	OMIM:610921
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Acute Interstitial Pneumonia	Reduced hematocrit, Cyanosis, Lymphadenopathy, Hypoxemia	ORPHA:79126
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:229700
3-Hydroxy-3-Methylglutaric Aciduria	Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Leukopenia, Acute pancreatitis, No...	ORPHA:20
Congenital Disorder Of Glycosylation, Type Iq	Optic atrophy, Coloboma	OMIM:612379
Infant Acute Respiratory Distress Syndrome	Hypoxemia, Cyanosis	ORPHA:70587
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Failure to thrive, Microvesicular hepatic steatosis, Cholestasis, Hypoglycemia, Cholangitis	OMIM:124000
Aicardi-Goutieres Syndrome 1	Petechiae, Hepatomegaly, Splenomegaly, Erythema, Purpura, Prolonged neonatal jaundice, Thrombocyt...	OMIM:225750
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Cyanosis	OMIM:261740
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Failure to thrive in infancy, Cyanotic episode	ORPHA:284417
Hepatocellular Carcinoma	Abnormality of the hepatic vasculature, Type II diabetes mellitus, Hepatomegaly, Hemobilia, Polyc...	ORPHA:88673
Pituitary Apoplexy	Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co...	ORPHA:95613
Timothy Syndrome	Hypoglycemia	OMIM:601005
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis	ORPHA:98913
Myasthenia Gravis	Glycosuria, Hemolytic anemia, Hepatitis, Abnormality of the thymus, Pure red cell aplasia, Acrocy...	ORPHA:589
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Optic nerve hypoplasia, Retinal detachment, Coloboma	ORPHA:370959
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Hepatomegaly, Hepatic calcification, Macrovesicular hepatic st...	OMIM:608836
Glycogen Storage Disease Ixd	Hypoglycemia	OMIM:300559
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Bile duct proliferation, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618329
Glucocorticoid Deficiency 2	Recurrent hypoglycemia	OMIM:607398
Sheehan Syndrome	Adrenocorticotropic hormone deficiency, Reduced circulating prolactin concentration, Panhypopitui...	ORPHA:91355
Coach Syndrome 1	Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrhosis, Coloboma, Optic disc pa...	OMIM:216360
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal cerebellum morphology, Abnormal upper motor neuron morphology	OMIM:601162
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Thrombocytosis, Diabetes mellitus, W...	ORPHA:2905
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Weight loss, Cyanosis	ORPHA:747
Immunodeficiency 59 And Hypoglycemia	Hypoglycemia, Decreased proportion of class-switched memory B cells, Hepatomegaly, Prolonged neon...	OMIM:233600
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Small for gestational age, Hypoketotic hypoglycemia, Overweight, Obesity, Jaundice	ORPHA:26793
Glycogen Storage Disease Ia	Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Hypoglycemia, Fasting hypoglycemia	OMIM:232200
Silver-Russell Syndrome	Cachexia, Decreased testicular size, Insulin resistance, Recurrent hypoglycemia, Cryptorchidism, ...	ORPHA:813
Mitochondrial Complex I Deficiency, Nuclear Type 1	Failure to thrive, Hepatomegaly, Splenomegaly, Cyanosis, Hypoglycemia, Death in infancy	OMIM:252010
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Periportal fibrosis, Splenomegaly, Neonatal death, Hepatic cysts, Portal hypertensi...	OMIM:263200
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, Coloboma, Retinal...	ORPHA:85167
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Restrictive Dermopathy 2	Cyanosis	OMIM:619793
Immunodeficiency, Common Variable, 10	Hypoglycemia, Decreased response to growth hormone stimulation test	OMIM:615577
D-Glyceric Aciduria	Hypoglycemia, Failure to thrive	OMIM:220120
Hereditary Bullous Dystrophy, Macular Type	Cryptorchidism, Acrocyanosis, Decreased testicular size	ORPHA:1867
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Thrombocytopenia	OMIM:617710
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Failure to thrive, Thrombocytopenia, Hepatic steatosis	ORPHA:99901
Aceruloplasminemia	Abnormal pancreas morphology, Abnormality of retinal pigmentation, Retinal degeneration, Macular ...	ORPHA:48818
Pulmonary Capillary Hemangiomatosis	Hypoxemia, Cyanosis, Lymphadenopathy, Mediastinal lymphadenopathy	ORPHA:199241
Intellectual Developmental Disorder, Autosomal Dominant 35	Hypoglycemia	OMIM:616355
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatic periportal necrosis, Hepatomegaly, Acute pancreatitis	ORPHA:26791
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas	ORPHA:1203
Pulmonary Arteriovenous Malformation	Cyanosis, Iron deficiency anemia, Hypoxemia, Telangiectasia, Liver abscess	ORPHA:2038
Familial Glucocorticoid Deficiency	Failure to thrive, Ketotic hypoglycemia, Leydig cell neoplasia, Testicular adrenal rest tumor, We...	ORPHA:361
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Hypoketotic hypoglycemia, Cholestasis, Diffuse hepatic steatosis, Failure to ...	ORPHA:746
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Failure to thrive, Hepatomegaly, Pancreatitis, Abnormal myeloid leukocyte morphology, Bruising su...	ORPHA:79259
Tyrosinemia, Type I	Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Hypoglycemia,...	OMIM:276700
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia, Slender build	OMIM:617600
Tetrasomy 5P	Failure to thrive, Cyanosis	ORPHA:3309
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Failure to thrive, Death in infancy	OMIM:610768
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia, Cryptorchidism, Large for gestational age	ORPHA:457485
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Severe B lymphocytopeni...	ORPHA:293978
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Deeah Syndrome	Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Decreased response to gro...	OMIM:619004
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Hypoglycemia, Hepatitis, Int...	OMIM:614921
Isolated Complex I Deficiency	Hypoglycemia, Failure to thrive, Hepatomegaly, Diabetes mellitus	ORPHA:2609
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly	ORPHA:228305
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Failure to thrive in infancy	ORPHA:488627
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Decreased response to growth hormone stimulation tes...	ORPHA:226307
Fructose Intolerance, Hereditary	Failure to thrive, Hepatomegaly, Cirrhosis, Glycosuria, Hypoglycemia, Hepatic steatosis, Jaundice	OMIM:229600
Familial Multiple Lipomatosis	Coloboma, Chorioretinitis	ORPHA:199276
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Insulin resistance, Diabetic ket...	ORPHA:769
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia, Neonatal hypoglycemia...	ORPHA:445038
Histiocytoid Cardiomyopathy	Failure to thrive, Hepatomegaly, Cyanosis, Hypoglycemia, Polycystic ovaries	ORPHA:137675
Acquired Purpura Fulminans	Macular purpura, Thrombocytopenia, Acrocyanosis	ORPHA:49566
Sotos Syndrome	Glucose intolerance, Prolonged neonatal jaundice, Neonatal hypoglycemia, Increased body weight, C...	OMIM:117550
Chiari Malformation Type Ii	Cyanosis	OMIM:207950
Annular Pancreas	Annular pancreas	ORPHA:675
Pancreas, Annular	Annular pancreas	OMIM:167750
Glycogen Storage Disease Ic	Chronic pancreatitis, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Spider hemangioma, ...	OMIM:232240
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia, Failure to thrive, Neutropenia	OMIM:618005
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:606070
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia	OMIM:615751
Complete Atrioventricular Septal Defect	Failure to thrive, Cyanosis, Hepatomegaly	ORPHA:1329
Bannayan-Riley-Ruvalcaba Syndrome	Subcutaneous hemorrhage, Cachexia, Cutis marmorata, Hypoglycemia, Telangiectasia	ORPHA:109
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Hypoglycemia, Obesity	OMIM:301066
Addison Disease	Hypoparathyroidism, Thymoma, Failure to thrive, Normocytic anemia, Hypoglycemia, Type I diabetes ...	ORPHA:85138
Dilated Cardiomyopathy With Ataxia	Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Neonatal hypoglycemia, Normochro...	ORPHA:66634
Kallmann Syndrome-Heart Disease Syndrome	Bilateral cryptorchidism, Decreased testicular size, Cyanosis	ORPHA:2326
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hypoglycemia, Failure to thrive	OMIM:210210
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Hypoglycemia, Death in infancy	OMIM:619355
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia	OMIM:301032
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia, Supernumerary nipple	ORPHA:457279
Cholera	Hypoglycemia, Palmoplantar cutis laxa, Miscarriage	ORPHA:173
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Failure to thrive, Adrenocorticotropic hormone excess, Congenital adrenal hyperplasia, Decreased ...	ORPHA:90791
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Anemia, Hyperinsulinemia, Insulin resistance	ORPHA:230
Eosinophilic Granulomatosis With Polyangiitis	Urticaria, Cutis marmorata, Eosinophilia, Purpura, Weight loss, Acrocyanosis	ORPHA:183
Leprechaunism	Postprandial hyperglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperinsuline...	ORPHA:508
Isolated Right Ventricular Hypoplasia	Hypoxemia, Cyanosis	ORPHA:439
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia, Obesity	OMIM:608624
Meckel Syndrome 14	Cyanosis, Hepatic fibrosis	OMIM:619879
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Neutropenia, Neonatal hypoglycemia, Thrombocytopenia, Hepatic steatosis	OMIM:616271
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Failure to thrive, Hypoglycemia, Neutropenia, Thrombocytopenia, Jaundice	ORPHA:79282
Pulmonary Alveolar Microlithiasis	Oxygen desaturation on exertion, Hepatomegaly, Testicular microlithiasis, Cyanosis, Hypoxemia, We...	ORPHA:60025
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia, Telangiectasia of the skin, Decreased response to growth hormone stimulation test	OMIM:616007
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Retinal detachment, Coloboma, Optic atrophy, Retinal atrophy, Cryptorchid...	OMIM:236670
Surfactant Metabolism Dysfunction, Pulmonary, 2	Hypoxemia, Failure to thrive, Cyanosis	OMIM:610913
Leigh Syndrome	Hypoglycemia, Failure to thrive, Anemia, Neutropenia	ORPHA:506
Tarp Syndrome	Extramedullary hematopoiesis, Failure to thrive, Cryptorchidism, Cyanosis	ORPHA:2886
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis	OMIM:619580
Holoprosencephaly	Panhypopituitarism, Abnormality of the spleen, Anterior hypopituitarism, Hypoglycemia, Diabetes m...	ORPHA:2162
Waardenburg Syndrome Type 3	Acrocyanosis	ORPHA:896
Rajab Interstitial Lung Disease With Brain Calcifications 1	Slender build, Failure to thrive, Small for gestational age, Cirrhosis, Cholestasis, Hypoglycemia...	OMIM:613658
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Polysplenia	OMIM:616749
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Pyruvate Carboxylase Deficiency	Hypoglycemia, Failure to thrive, Hepatomegaly, Hyperglycemia	ORPHA:3008
Hereditary Fructose Intolerance	Reactive hypoglycemia, Hepatomegaly, Jaundice	ORPHA:469
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Failure to thrive, Decreased response to growth hormone stimulation test, Insulin resistance, Sma...	ORPHA:96182
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia, Cryptorchidism	ORPHA:565624
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Hydrocephalus, Chiari malformation	OMIM:618162
Beckwith-Wiedemann Syndrome	Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr...	ORPHA:116
Congenital Myasthenic Syndrome	Cyanosis	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis	ORPHA:98914
Rare Circulatory System Disease	Cyanosis	ORPHA:98028
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Hepatoblastoma, Supernumerary nipple, Splenomegaly, Hypoglycemia, Pancreatic islet-...	ORPHA:373
Marburg Hemorrhagic Fever	Petechiae, Pancreatitis, Lymphopenia, Orchitis, Bruising susceptibility, Leukopenia, Abnormal lym...	ORPHA:99826
Orthostatic Hypotension 1	Neonatal hypoglycemia, Reduced circulating prolactin concentration	OMIM:223360
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Cy...	ORPHA:293987
Choanal Atresia	Cyanosis	ORPHA:137914
Acute Adrenal Insufficiency	Hypoglycemia, Failure to thrive, Weight loss, Normocytic anemia	ORPHA:95409
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Death in infancy	OMIM:617478
Criss-Cross Heart	Cyanosis	ORPHA:1461
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemia, Hypoglycemic seizures	ORPHA:480864
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Hepatic arteriovenous malformation, Polycythemia, Cirrhosis, Palmar t...	OMIM:600376
Heterotaxy, Visceral, 1, X-Linked	Failure to thrive, Hepatomegaly, Biliary atresia, Cyanosis, Abdominal situs inversus, Polysplenia...	OMIM:306955
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypoglycemia, Failure to thrive, Hepatic steatosis, Hepatomegaly	ORPHA:17
Esophageal Atresia	Cyanosis, Maternal diabetes, Failure to thrive in infancy, Small for gestational age	ORPHA:1199
Telangiectasia, Hereditary Hemorrhagic, Type 1	Telangiectasia, Telangiectasia of the skin, Miscarriage, Hepatic arteriovenous malformation, Poly...	OMIM:187300
Non-Acquired Panhypopituitarism	Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ...	ORPHA:90695
Alg12-Cdg	Failure to thrive, B lymphocytopenia, Recurrent hypoglycemia, Cryptorchidism, Thrombocytopenia	ORPHA:79324
Acute Liver Failure	Hepatocellular necrosis, Hypocapnia, Bruising susceptibility, Hypoglycemia, Hepatitis, Hepatic pe...	ORPHA:90062
Carnitine Palmitoyltransferase Ii Deficiency	Hepatic calcification, Hypoketotic hypoglycemia, Hepatomegaly	ORPHA:157
Arnold-Chiari Malformation Type Ii	Cyanosis	ORPHA:1136
Menkes Disease	Hypoglycemia, Spontaneous hematomas, Prolonged neonatal jaundice	ORPHA:565
Atrial Septal Defect, Ostium Primum Type	Failure to thrive, Cyanosis	ORPHA:99106
Kabuki Syndrome 2	Neonatal hypoglycemia, Decreased body weight	OMIM:300867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hypoplasia of the retina, Retinal degeneration, Coloboma, Optic atrophy, Retinal atrophy, Retinal...	OMIM:253280
Bannayan-Riley-Ruvalcaba syndrome	Hypoglycemia, Supernumerary nipple, Angiokeratoma	OMIM:153480
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatic calcification, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly	ORPHA:228308
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Failure to thrive, Adrenocorticotropic hormone excess, Abnormality of the Leydig cells, Elevated ...	ORPHA:168558
Acro-Renal-Ocular Syndrome	Optic disc coloboma, Coloboma, Iris coloboma, Optic disc hypoplasia, Aganglionic megacolon, Chori...	ORPHA:959
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia	OMIM:616878
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Failure to thrive, Adrenocorticotropic hormone excess, Abnormality of the Leydig cells, Elevated ...	ORPHA:289548
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia, Thrombocytopenia	ORPHA:572798
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia	ORPHA:35173
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
Atrioventricular Septal Defect 3	Cyanosis	OMIM:600309
Meckel Syndrome	Hydrocephalus, Cryptorchidism, Pancreatic fibrosis, Accessory spleen, Anencephaly, Congenital hep...	ORPHA:564
Ethylene Glycol Poisoning	Cyanosis	ORPHA:31826
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067

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