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
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 Similarity of
phenotypes
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