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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Small for gestationa... OMIM:615935
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Large for gestational age, Hypoketotic hypoglycemia, Increased hepatic gly... ORPHA:293964
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Small for gestationa... OMIM:615935
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Exocrine ... OMIM:260370
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Hypoglycemia, Decreased body weight ORPHA:314811
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia OMIM:613703
Mody
Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc... ORPHA:552
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Hypoglycemia OMIM:262400
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
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Pancreatic Agenesis-Holoprosencephaly Syndrome
Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Absent gallbladder, Hypo... ORPHA:556955
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hepatomegaly, Hypoglycemia, Increased hepatic glycogen content OMIM:232700
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Cyanosis, Transient Neonatal
Reticulocytosis, Cyanosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice OMIM:613977
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Absent gallbladder, Neonatal death, ... OMIM:618500
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Large for gestational age, Hyperinsu... ORPHA:324575
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Cryptorchidism, Abnormal spleen morphology, Aplasia/Hypoplas... ORPHA:2470
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
17Q12 Microdeletion Syndrome
Diabetes mellitus, Cryptorchidism, Pancreatic aplasia ORPHA:261265
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Congenital Glaucoma
Retinal detachment ORPHA:98976
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Diarrhea 13
Hepatic steatosis, Failure to thrive, Recurrent hypoglycemia OMIM:620357
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver par... ORPHA:456312
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Failure to thrive, Hypoglycemia OMIM:610090
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ... ORPHA:276580
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,... ORPHA:2255
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ... OMIM:615710
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Non-Acquired Isolated Growth Hormone Deficiency
Premature skin wrinkling, Abdominal obesity, Prolonged neonatal jaundice, Neonatal hypoglycemia, ... ORPHA:631
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Large for ge... ORPHA:276556
Hemochromatosis, Neonatal
Hepatic fibrosis, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neonat... OMIM:231100
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Coloboma ORPHA:324416
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Retinopathy ORPHA:90654
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hypoglycemia, Increased hepatic glycogen co... ORPHA:369
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Fasting hypoglycemia ORPHA:171706
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hypoglycemia, Pancytopenia, Hepatic steatosis, Hepatomegaly OMIM:617872
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Cyanosis, Fasting hypoglycemia, ... OMIM:261680
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Failure to thrive ORPHA:91130
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Large for gestational age, Focal pa... ORPHA:79644
Endocardial Fibroelastosis
Anterior hypopituitarism, Cryptorchidism, Hypoglycemia ORPHA:2022
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hypoglycemia, Increased hepatic glycogen content OMIM:261750
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia ORPHA:664
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:619048
Perching Syndrome
Cyanosis OMIM:617055
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... OMIM:601346
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma OMIM:274270
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Obesity, Small for gestational age, Hypogl... OMIM:300148
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Small for gestational age, Hypoglycemia, Decreased body weight ORPHA:231140
Acth Deficiency, Isolated
Cholestasis, Jaundice, Adrenocorticotropic hormone deficiency, Fasting hypoglycemia OMIM:201400
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Failure to thrive, Thrombocytopenia ORPHA:67048
Glycogen Storage Disease Ixc
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ... OMIM:613027
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Ketotic hypoglycemia, Failure to thrive ORPHA:26792
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Death in childhood, Hypoglycemia OMIM:246900
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypoplasia of the pancrea... ORPHA:93111
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Joubert Syndrome 22
Retinal dysplasia, Coloboma OMIM:615665
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Pancreatitis, Hepatic steatosis, Hypoglycemia OMIM:619386
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia, Premature skin wrinkling OMIM:617950
Cataract 21, Multiple Types
Macular hypoplasia, Iris coloboma, Retinal detachment OMIM:610202
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Death in infancy, Cirrhosis, Jaundice OMIM:617049
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis OMIM:257500
Joubert Syndrome 16
Coloboma, Retinal dystrophy OMIM:614465
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia ORPHA:231147
Insulinoma
Abnormality of the pancreatic islet cells, Pituitary prolactin cell adenoma, Fasting hyperinsulin... ORPHA:97279
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hypoglycemia OMIM:620137
Joubert Syndrome 15
Coloboma, Retinopathy, Retinal dystrophy OMIM:614464
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Cryptorchidism, Failure to thrive, Hypoglycemia OMIM:618958
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Splenomegaly, Death in infancy, Macrocytic anemia, Neonatal hypoglycemia OMIM:619046
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Glycosuri... ORPHA:99885
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia OMIM:306000
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hepatomegaly, Small for ge... ORPHA:79237
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Death in infancy, Neonatal death, Hepatomegaly, Optic disc pallor OMIM:613730
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Cerebellar atrophy OMIM:215470
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Cyanosis, Splenomegaly ORPHA:2414
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia, Mediastinal lymphadenopathy, Failure to thrive ORPHA:91359
Coach Syndrome 2
Hepatic fibrosis, Portal fibrosis, Chorioretinal coloboma, Congenital hepatic fibrosis, Coloboma OMIM:619111
Glycogen Storage Disease Iii
Hepatomegaly, Hepatic fibrosis, Hypoglycemia OMIM:232400
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:5
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, Pancreatic isl... ORPHA:263455
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Cryptorchidism, N... OMIM:611890
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis ORPHA:71277
Hereditary Methemoglobinemia
Cyanosis, Methemoglobinemia, Small for gestational age ORPHA:621
Hypoadrenocorticism, Familial
Cyanosis, Hypoglycemia OMIM:240200
Temple Syndrome
Recurrent hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, Type II d... ORPHA:254516
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Cryptorchidism, Death in infancy ORPHA:95496
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... ORPHA:811
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Failure to thrive OMIM:263000
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Cervical lymphadenopathy, Decreased response to ... OMIM:602782
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypoglycemia, Death in childhood, Death in infancy, Neonatal death OMIM:245400
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hypoglycemic seizures, Neonatal hypoglycemia, Hepatitis ORPHA:199296
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia ORPHA:163693
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hypoglycemia OMIM:620211
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Retinal detachment, Macular atrophy, Iris coloboma, Retinal dystrophy OMIM:212550
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Failure to thrive, Death in infancy OMIM:602473
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:2394
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia ORPHA:289504
Abruzzo-Erickson Syndrome
Coloboma, Iris coloboma, Cryptorchidism, Chorioretinal coloboma ORPHA:921
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Hypoglycemia, Failur... OMIM:619418
Congenital Fibrinogen Deficiency
Bruising susceptibility, Hemorrhagic ovarian cyst, Decreased testicular size, Subcutaneous hemorr... ORPHA:335
Dextrocardia
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia ORPHA:1666
Infantile Liver Failure Syndrome 2
Jaundice, Hypoglycemia OMIM:616483
Orthostatic Hypotension 2
Anemia, Hypoglycemia OMIM:618182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Retinal detachment, Death in childhood OMIM:613153
Cryptogenic Organizing Pneumonia
Leukocytosis, Cyanosis, Weight loss, Neutrophilia, Hypoxemia ORPHA:1302
Propionic Acidemia
Failure to thrive, Hypoglycemia, Pancytopenia, Anemia, Pancreatitis, Neutropenia, Thrombocytopeni... OMIM:606054
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Necrotizing Enterocolitis
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Cyanosis, Peritonitis, Thrombocytopeni... ORPHA:391673
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm, Retinal coloboma OMIM:615113
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Periportal fibrosis, Failure to thrive, Micronodular cir... OMIM:251880
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Failure to thrive ORPHA:2089
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Srd5A3-Cdg
Optic atrophy, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Colo... ORPHA:324737
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Glycosuria, Maturity-onset diabetes of the young, Exocrine pancreatic insu... OMIM:137920
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia OMIM:615160
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Death in infancy, Hypoglycemia, Neonatal death OMIM:618835
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Iris coloboma OMIM:616722
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyperinsulinemia, Pancr... OMIM:246200
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Death in infancy, Hypoglycemia, Neonatal death OMIM:618839
Abcd Syndrome
Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Neonatal death, Aganglionic ... OMIM:600501
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hypoglycemia, Cholestasis, Hepatic steatosi... ORPHA:264580
Laron Syndrome
Hypoglycemia, Prematurely aged appearance, Truncal obesity ORPHA:633
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hypoglycemia, Leukopenia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatom... OMIM:251000
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Death in childhood, Death in infancy, Microvesicular hepatic steatosis, Thrombocyto... OMIM:611126
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Glucose intolerance, Acrocyanosis, Failure to thrive, Impaired glucose tolerance OMIM:614407
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Congenitally Uncorrected Transposition Of The Great Arteries
Small for gestational age, Failure to thrive, Cyanosis, Maternal diabetes, Hepatomegaly, Hypoxemia ORPHA:860
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Small for gestational age, Failure to thrive OMIM:614702
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Failure to thrive, Hypoglycemia, Death in childhood, Death in infancy, Neonatal death, Death in a... OMIM:619055
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Weight loss, Abnormal peritoneum mor... ORPHA:2126
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hypoglycemia ORPHA:231137
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Hepatom... OMIM:231680
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Hepatic steatosis, Hypoglycemia ORPHA:42
Aromatic L-Amino Acid Decarboxylase Deficiency
Increased circulating prolactin concentration, Failure to thrive, Hypoglycemia ORPHA:35708
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia OMIM:201910
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Failure to thrive, Death in infancy, Neonatal death OMIM:265120
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Failure to thrive, Hypoglycemia OMIM:614736
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Carnitine Deficiency, Systemic Primary
Failure to thrive, Recurrent hypoglycemia, Decreased carnitine level in liver, Microvesicular hep... OMIM:212140
Immunodeficiency 10
Hypoglycemia, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopat... OMIM:612783
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Classic Galactosemia
Hypoglycemia, Cryptorchidism, Abnormal erythrocyte enzyme concentration or activity, Hepatomegaly... ORPHA:79239
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Petechiae, Decreased body weight, Cyanosis, Anemia, Neutropenia, Thro... ORPHA:90051
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Large for gestational age, Hepatomegaly, Diabetes mellitus OMIM:616026
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabetes of the young,... OMIM:609812
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Cyanosis, Fasting hypoglycemia ORPHA:159
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Hypoglycemia, Hepatic steatosis, J... OMIM:617093
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia, Pyridoxine-responsive sideroblastic anemia ORPHA:79096
Microphthalmia, Isolated 4
Absent testis, Coloboma OMIM:613094
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Weight loss, Acrocyanosis ORPHA:3165
Cog8-Cdg
Spontaneous hematomas, Failure to thrive, Hypoglycemia ORPHA:95428
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Testicular seminoma, Fasting hypoglycemia,... OMIM:180860
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis, Failure to thrive ORPHA:51188
Tricuspid Atresia
Cyanosis ORPHA:1209
Mirage Syndrome
Hypoglycemia, Lymphopenia, Leukopenia, Decreased testicular size, Cryptorchidism, Petechiae, Decr... OMIM:617053
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Elevated circulating luteinizing hormone level, Cyanosis OMIM:250790
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis OMIM:231530
High Altitude Pulmonary Edema
Hypoxemia, Leukocytosis, Cyanosis ORPHA:330012
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cryptorchidism, Coloboma, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypoglycemia OMIM:600649
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Peritonitis, Lymphadenopathy, Hepatomegaly, Acrocyanosis, Purpura, Urticaria ORPHA:343
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoglycemia, Dorsocervical fat pad, Decreased body weight, Diabetes mellitus, Small for gestatio... ORPHA:391408
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Glycosuria, Abnormal hepatic glycogen storage, Inc... ORPHA:2088
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Maple Syrup Urine Disease, Type Ia
Pancreatitis, Hypoglycemia OMIM:248600
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Truncal obesity, Small for gestational age ORPHA:73272
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Recurrent hypoglycemia, Splenomegaly, Polycystic ovaries, Increased body weight... ORPHA:79240
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Cyanotic episode ORPHA:284417
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Failure to thrive, Glycosuria, Hyperglycemia, Absent gallbladder, Biliary ... OMIM:600001
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Prominent superficial veins, Small for gestational age, Cryptorchidism, Recurrent hypoglycemia OMIM:616817
Hsd10 Disease, Infantile Type
Cyanosis, Hypoglycemia ORPHA:391428
Double Outlet Right Ventricle
Hypoparathyroidism, Cyanosis, Failure to thrive, Aplasia/Hypoplasia of the thymus ORPHA:3426
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Cholestasis, Death in infancy, Microvesicular hepatic steatosis,... OMIM:617156
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... OMIM:131100
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia, Decreased testicular size, Anterior pituitary hypoplasia,... OMIM:616113
Blue Diaper Syndrome
Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia ORPHA:94086
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Atrophy of the spinal cord... OMIM:602433
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Small for gestational age, Neutropenia OMIM:618253
Long-Olsen-Distelmaier Syndrome
Death in childhood, Failure to thrive, Hypoglycemia OMIM:620609
Smith-Kingsmore Syndrome
Hypoglycemia, Large for gestational age, Cryptorchidism, Thrombocytopenia OMIM:616638
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia ORPHA:156
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia OMIM:250800
Asbestos Intoxication
Oxygen desaturation on exertion, Hypoxemia, Mediastinal lymphadenopathy, Cyanosis ORPHA:2302
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Decreased testicular size, Type II diabetes mellitus, Anterior pituitary hypoplasia... ORPHA:453533
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Macular hypoplasia, Aniridia, Coloboma ORPHA:2334
Acquired Methemoglobinemia
Methemoglobinemia, Hypoxemia, Cyanosis ORPHA:464453
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:201450
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Congenital Disorder Of Glycosylation, Type Iie
Failure to thrive, Hypoglycemia, Splenomegaly, Death in infancy, Excessive wrinkled skin, Hepatom... OMIM:608779
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Severe failure to thrive, Cryptorchidism ORPHA:3304
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Death in infancy, Nonketotic hyp... OMIM:201475
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic ... ORPHA:71212
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Hypoglycemia, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia, Hepatomegaly OMIM:251110
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Failure to thrive OMIM:606407
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Glutaric Acidemia I
Hepatomegaly, Failure to thrive, Hypoglycemia OMIM:231670
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Hepatitis, Failure to thrive, Hyp... ORPHA:199299
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Neonatal hypoglycemia, Posterior pituitary hypoplasia, Hypoglycemia OMIM:613986
Liver Disease, Severe Congenital
Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, In... OMIM:619991
Primary Pulmonary Hypoplasia
Cyanosis, Hypoxemia, Failure to thrive ORPHA:2257
Fucosidosis
Failure to thrive, Vascular skin abnormality, Abnormality of the gallbladder, Hepatomegaly, Acroc... ORPHA:349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Retinal degeneration OMIM:615249
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Panhypopituitarism, Neonatal hypoglycemia, Reduced circulating prolactin c... OMIM:262600
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis, Recurrent hypogl... OMIM:256810
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia OMIM:212138
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Failure to thrive ORPHA:444013
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Splenomegaly, Plethora, Weight loss,... ORPHA:2905
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hypoglycemia, Adrenal hyperplasia, Jaundice, Macroorchidism ORPHA:90790
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Coloboma, Morning glory anomaly ORPHA:91412
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Bachmann-Bupp Syndrome
Large for gestational age, Cryptorchidism, Hypoglycemia OMIM:619075
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Ketotic hypoglycemia, Failure to thrive OMIM:620646
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Leukocytosis, Weight loss, Thrombocytosis, Hepatomegaly ORPHA:134
Shigellosis
Microangiopathic hemolytic anemia, Hypoglycemia, Failure to thrive in infancy, Cholestasis, Leuko... ORPHA:810
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Small for gestational age, Hypoglycemia ORPHA:397590
Glucocorticoid Deficiency 1
Failure to thrive, Recurrent hypoglycemia OMIM:202200
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... OMIM:167800
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Hypoglycemia, Neonatal death OMIM:620300
Glycogen Storage Disease Ib
Hypoglycemia, Splenomegaly, Pancreatitis, Pancreatic fibrosis, Neutropenia, Hepatomegaly, Hepatoc... OMIM:232220
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Hepatic steatosis, Fasting hypoglycemia, Hepatomegaly, Neonatal hypoglycemia ORPHA:348
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Congenital Syphilis
Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegaly, Petechiae, Prolonged neonatal jau... ORPHA:499009
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Hypoglycemia OMIM:618838
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Glucocorticoid Deficiency 2
Bilateral cryptorchidism, Hypoglycemia, Recurrent hypoglycemia OMIM:607398
Surfactant Metabolism Dysfunction, Pulmonary, 3
Failure to thrive, Cyanosis, Death in infancy, Neonatal death, Hypoxemia OMIM:610921
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cyanosis, Hypoxemia, Small for gestational age ORPHA:555874
Congenital Primary Aphakia
Aniridia, Retinal dysplasia, Retinal detachment, Optic disc coloboma ORPHA:83461
Acute Interstitial Pneumonia
Cyanosis, Reduced hematocrit, Hypoxemia, Lymphadenopathy ORPHA:79126
Mitochondrial Trifunctional Protein Deficiency 1
Cholestasis, Hypoketotic hypoglycemia, Small for gestational age, Failure to thrive OMIM:609015
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Weight loss, Cyanosis ORPHA:747
Perlman Syndrome
Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology ORPHA:2849
3-Hydroxy-3-Methylglutaric Aciduria
Recurrent hypoglycemia, Leukopenia, Leukocytosis, Lipid accumulation in hepatocytes, Anemia, Weig... ORPHA:20
Congenital Heart Block
Cyanosis ORPHA:60041
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia ORPHA:70587
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Coloboma, Retinal detachment, Optic nerve hypoplasia ORPHA:370959
Aicardi-Goutieres Syndrome 1
Erythema, Splenomegaly, Petechiae, Hepatomegaly, Thrombocytopenia, Prolonged neonatal jaundice, A... OMIM:225750
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Failure to thrive, Cryptorchidis... ORPHA:83617
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Coloboma OMIM:612379
Congenital Disorder Of Glycosylation, Type Iiaa
Nodular regenerative hyperplasia of liver, Hepatic fibrosis, Biliary cirrhosis, Hypoglycemia, Cho... OMIM:620454
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:605911
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Hypoglycemia, Splenomegaly, Death in infancy, Cyanosis, Hepatomegaly OMIM:252010
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Macrovesicular hepatic steatosis, Failure to thrive, Bile duct proliferation OMIM:618329
Reni Syndrome
Lymphopenia, Cryptorchidism, Hypoglycemia OMIM:617575
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Thrombocytopenia OMIM:617710
Congenital Disorder Of Glycosylation, Type Ig
Hypoglycemia, Cryptorchidism, Small for gestational age, Failure to thrive OMIM:607143
Coach Syndrome 1
Hepatic fibrosis, Intrahepatic bile duct dilatation, Portal hypertension, Splenomegaly, Cirrhosis... OMIM:216360
Myasthenia Gravis
Glycosuria, Hepatitis, Abnormal thymus morphology, Pure red cell aplasia, Acrocyanosis, Hemolytic... ORPHA:589
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Death in infancy, Lipid accumulation in hepatocytes, Hepatic calcification, Nonketo... OMIM:608836
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ... ORPHA:85167
Glycogen Storage Disease Ia
Hypoglycemia, Pancreatitis, Fasting hypoglycemia, Hepatomegaly, Hepatocellular carcinoma OMIM:232200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Obesity, Hypoketotic hypoglycemia, Hepatomegaly, Jaundice, Overweight, Small for gestational age ORPHA:26793
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Failure to thrive, Glycosuria, Reduced subc... OMIM:227810
Pulmonary Capillary Hemangiomatosis
Cyanosis, Hypoxemia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Aceruloplasminemia
Macular degeneration, Abnormal pancreas morphology, Abnormality of retinal pigmentation, Retinal ... ORPHA:48818
Pulmonary Arteriovenous Malformation
Cyanosis, Telangiectasia, Iron deficiency anemia, Hypoxemia, Liver abscess ORPHA:2038
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia, Failure to thrive in infancy, Decreased testicular si... ORPHA:813
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Acrocyanosis, Cryptorchidism ORPHA:1867
Dravet Syndrome
Cyanotic episode ORPHA:33069
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Hypoglycemia OMIM:615577
Pituitary Apoplexy
Pituitary adenoma, Hypoglycemia, Increased circulating prolactin concentration, Hypopituitarism, ... ORPHA:95613
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Hepatic periportal necrosis ORPHA:26791
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Prolonged neonatal jaundice, Decreased proportion of class-switched memory B cells,... OMIM:233600
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Nonketotic hypoglycemia, Failure to thrive, Thrombocytopenia ORPHA:99901
Sheehan Syndrome
Secondary growth hormone deficiency, Hypoglycemia, Breast hypoplasia, Obesity, Panhypopituitarism... ORPHA:91355
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Failure to thrive, Cryptorchidism, Ketotic hypoglycemia, Weight loss, Hypo... ORPHA:361
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoglycemia OMIM:620275
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Tyrosinemia, Type I
Failure to thrive, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Anemia, Cirrhos... OMIM:276700
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Neonatal hypoglycemia OMIM:617600
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hyperg... OMIM:124000
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Tetrasomy 5P
Cyanosis, Failure to thrive ORPHA:3309
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Br... ORPHA:79259
Isolated Complex I Deficiency
Hepatomegaly, Diabetes mellitus, Failure to thrive, Hypoglycemia ORPHA:2609
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
D-Glyceric Aciduria
Failure to thrive, Hypoglycemia OMIM:220120
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Cyanosis, Thrombocytopenia OMIM:620423
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Anemia, Death in childhood, Hypoglycemia OMIM:246450
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Neonatal hypoglycemia, Cryptorchidism ORPHA:457485
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Death in infancy OMIM:610768
Deeah Syndrome
Exocrine pancreatic insufficiency, Decreased response to growth hormone stimulation test, Panhypo... OMIM:619004
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Cholestasis, Hypoketotic hypoglycemia, Hypoparathyroidism, Diffuse ... ORPHA:746
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Cyanosis ORPHA:488627
Histiocytoid Cardiomyopathy
Failure to thrive, Hypoglycemia, Cyanosis, Polycystic ovaries, Hepatomegaly ORPHA:137675
Acquired Purpura Fulminans
Acrocyanosis, Thrombocytopenia, Macular purpura ORPHA:49566
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Familial Multiple Lipomatosis
Coloboma, Chorioretinitis ORPHA:199276
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Death in infancy, Neonatal death, Neutropenia, Jaundice, Neonatal hypoglycemia OMIM:617248
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Hepatitis, Hypoglycemia, Hepatic steatosis, Increased hepatic glycogen ... OMIM:614921
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Timothy Syndrome
Hypoglycemia OMIM:601005
Aica-Ribosiduria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hypoketotic hypoglycemia, Hepatic steatosis ORPHA:228305
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Pituitary hypothyroidism, Hypoglycemia, Hypopituitarism, Decreased r... ORPHA:226307
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Hepatic steatosis, Neutropenia, Ne... ORPHA:445038
Sotos Syndrome
Glucose intolerance, Cryptorchidism, Increased body weight, Prolonged neonatal jaundice, Neonatal... OMIM:117550
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... ORPHA:769
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Glycogen Storage Disease Ic
Spider hemangioma, Hypoglycemia, Cyclic neutropenia, Chronic pancreatitis, Hepatoblastoma, Hepato... OMIM:232240
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Failure to thrive, Neutropenia OMIM:618005
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hepatic steatosis OMIM:255120
Fructose Intolerance, Hereditary
Failure to thrive, Hypoglycemia, Glycosuria, Hepatic steatosis, Cirrhosis, Hepatomegaly, Jaundice OMIM:229600
Perlman Syndrome
Hypoglycemia, Large for gestational age, Cryptorchidism, Pancreatic islet-cell hyperplasia OMIM:267000
Complete Atrioventricular Septal Defect
Hepatomegaly, Cyanosis, Failure to thrive ORPHA:1329
Kallmann Syndrome-Heart Disease Syndrome
Decreased testicular size, Cyanosis, Bilateral cryptorchidism ORPHA:2326
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Polysplenia OMIM:616749
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Death in infancy, Hypoglycemia OMIM:619355
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Hypoxemia, Failure to thrive OMIM:610913
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Congenital adrenal hyperplasia, Decreased testicular size, Cryptorchidism, Adr... ORPHA:90791
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Addison Disease
Normocytic anemia, Thymoma, Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Thiamine-r... ORPHA:85138
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia, Subcutaneous hemorrhage, Cutis marmorata, Telangiectasia, Cachexia ORPHA:109
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Purpura, Eosinophilia, Weight loss, Acrocyanosis, Urticaria ORPHA:183
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hypoglycemia, Obesity, Hepatosplenomegaly, Cholecystitis, Hepatomegaly OMIM:301066
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test,... ORPHA:293978
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Cyanosis, Weight loss, Hepatomegaly, Testicular microlithiasis, ... ORPHA:60025
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Death in infancy, Failure to thrive, Death in childhood OMIM:618426
Rajab Interstitial Lung Disease With Brain Calcifications 1
Failure to thrive, Hypoglycemia, Cholestasis, Slender build, Pancytopenia, Portal hypertension, H... OMIM:613658
Dopamine Beta-Hydroxylase Deficiency
Anemia, Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
Meckel Syndrome 14
Hepatic fibrosis, Cyanosis OMIM:619879
Dilated Cardiomyopathy With Ataxia
Bilateral cryptorchidism, Normochromic microcytic anemia, Microvesicular hepatic steatosis, Hypoc... ORPHA:66634
Double Outlet Left Ventricle
Cyanosis, Failure to thrive, Cryptorchidism ORPHA:3427
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Cryptorchidism, Retinal atrophy, Coloboma, Retinal detachment, Retinal dysplasia, ... OMIM:236670
Cholera
Palmoplantar cutis laxa, Hypoglycemia, Miscarriage ORPHA:173
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Hypoglycemia OMIM:210210
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Supernumerary nipple ORPHA:457279
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Glycerol Kinase Deficiency
Cryptorchidism, Chronic pancreatitis, Small for gestational age, Hypoglycemia OMIM:307030
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia, Neonatal hypoglycemia OMIM:616271
Choanal Atresia
Cyanosis ORPHA:137914
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Hyperinsulinemia, Recurrent in... ORPHA:508
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Tarp Syndrome
Cyanosis, Cryptorchidism, Failure to thrive, Extramedullary hematopoiesis ORPHA:2886
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Telangiectasia of the skin, Hypoglycemia OMIM:616007
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Hypoglycemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Jaundice ORPHA:79282
Leigh Syndrome
Anemia, Hypoglycemia, Failure to thrive, Neutropenia ORPHA:506
Heterotaxy, Visceral, 1, X-Linked
Failure to thrive, Abdominal situs inversus, Polysplenia, Cyanosis, Biliary atresia, Hepatomegaly... OMIM:306955
Holoprosencephaly
Hypoglycemia, Failure to thrive in infancy, Abnormality of the spleen, Panhypopituitarism, Crypto... ORPHA:2162
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cryptorchidism, Hypoglycemia OMIM:620224
Congenital Myasthenic Syndrome
Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98914
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Cryptorchidism ORPHA:565624
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia ORPHA:3008
Cardiogenic Shock
Hepatomegaly, Cyanosis, Hypoxemia ORPHA:97292
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Failure to thrive, Decreased response to growth hormone stimulation test, Cry... ORPHA:96182
Hereditary Fructose Intolerance
Hepatomegaly, Jaundice, Reactive hypoglycemia ORPHA:469
Beckwith-Wiedemann Syndrome
Polycythemia, Abnormal pancreas morphology, Hypoglycemia, Exocrine pancreatic insufficiency, Obes... ORPHA:116
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Hypoglycemia ORPHA:480864
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Bruising susceptibility, Hypoglycemia, Lymphopenia, Abnorm... ORPHA:99826
Simpson-Golabi-Behmel Syndrome
Polysplenia, Hypoglycemia, Supernumerary nipple, Splenomegaly, Pancreatic islet-cell hyperplasia,... ORPHA:373
Esophageal Atresia
Failure to thrive in infancy, Cyanosis, Maternal diabetes, Small for gestational age ORPHA:1199
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Hepatic steatosis, Failure to thrive, Hypoglycemia ORPHA:17
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Hypoglycemia OMIM:614501
Criss-Cross Heart
Cyanosis ORPHA:1461
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon OMIM:601374
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Hypopituitarism, Dec... ORPHA:90695
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Polycythemia, Palmar telangiectasia, Tongue telangiectasia, Nail bed ... OMIM:600376
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Telangiectasia, Hereditary Hemorrhagic, Type 1
Polycythemia, Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanos... OMIM:187300
Acute Adrenal Insufficiency
Normocytic anemia, Weight loss, Failure to thrive, Hypoglycemia ORPHA:95409
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Cyanosis OMIM:261740
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:293987
Alg12-Cdg
Failure to thrive, Recurrent hypoglycemia, Cryptorchidism, Thrombocytopenia, B lymphocytopenia ORPHA:79324
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Failure to thrive ORPHA:99106
Acute Liver Failure
Hepatitis, Hypoglycemia, Hepatic periportal necrosis, Hepatocellular necrosis, Bruising susceptib... ORPHA:90062
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hepatic calcification ORPHA:157
Kabuki Syndrome 2
Neonatal hypoglycemia, Decreased body weight OMIM:300867
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia OMIM:620451
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia OMIM:616878
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatic calcification ORPHA:228308
Familial Dysautonomia
Acrocyanosis, Abnormal peritoneum morphology ORPHA:1764
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Failure to thriv... ORPHA:168558
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Menkes Disease
Prolonged neonatal jaundice, Spontaneous hematomas, Hypoglycemia ORPHA:565
Cerebral Visual Impairment