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Gene: Ptf1a MGI:1328312

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
pancreas specific transcription factor, 1a
Synonyms:
bHLHa29,  PTF1-p48

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ptf1a mutations

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

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

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, Small for gestational age, Diabetes mellitus, Pancreatic aplasia, Exocrine... OMIM:615935
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Cerebellar hypoplasia ORPHA:65288
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Anemia, Death in infancy, Reduced subcutaneous adipose tissue, Failure to ... 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, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Pancreatic Agenesis 2
Pancreatic hypoplasia, Small for gestational age, Diabetes mellitus, Pancreatic aplasia, Exocrine... OMIM:615935
Pancreatic Agenesis 1
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreati... OMIM:260370
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Cerebellar hypoplasia ORPHA:65288
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Anemia, Death in infancy, Reduced subcutaneous adipose tissue, Failure to ... OMIM:609069
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen OMIM:615439
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased body weight, Abnormality of body weight ORPHA:314811
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Coloboma OMIM:613703
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... OMIM:605670
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, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:67046
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... ORPHA:552
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Hypoglycemia, Failure to thrive in infancy, Hepatomegaly OMIM:232700
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Hypo... ORPHA:556955
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Enlarged tonsils, Large for gestational age, N... ORPHA:293964
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Cyanosis, Transient Neonatal
Cyanosis, Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia OMIM:613977
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... OMIM:618889
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... ORPHA:324575
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Small for gestational age, Type I diabetes mellitus, Pancreatic aplasia, Exoc... OMIM:618500
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Failure to thri... ORPHA:2470
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Coloboma OMIM:602499
17Q12 Microdeletion Syndrome
Diabetes mellitus, Pancreatic aplasia, Cryptorchidism ORPHA:261265
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Posterior vitreous detachment, Retinal detach... OMIM:616468
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Congenital Glaucoma
Retinal detachment ORPHA:98976
Retinitis Pigmentosa 50
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... OMIM:613194
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Elevated circulating thyroid-stimulating hormone concentration ORPHA:171706
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Aplasia/Hypoplasia of the pancreas, Hypoxemia, Failure to thrive, Diabetes mellitus, Hepatomegaly... ORPHA:456312
Macular Degeneration, Age-Related, 1
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... OMIM:603075
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Irvan Syndrome
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... ORPHA:209943
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... ORPHA:85128
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Anemia, Hypoglycemia OMIM:610090
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Large for gestational age, Hyperin... ORPHA:276580
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Hyperinsulinemic hypoglyce... ORPHA:276575
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Insulin resistance, Failure to thrive, Hypoglycemia, Diabetes mellitus... ORPHA:181393
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancr... ORPHA:276556
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Diabetes mellitus, Ch... OMIM:615710
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Coloboma ORPHA:324416
Usher Syndrome, Type Iv
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... OMIM:618144
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Biliary atresia, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hyp... ORPHA:2255
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, Hepatic steatosis, ... OMIM:617872
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Hemochromatosis, Neonatal
Hepatic fibrosis, Cirrhosis, Hepatocellular necrosis, Hypoglycemia, Cholestasis, Prolonged neonat... OMIM:231100
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Portal fibrosis, Increased hepatic glycoge... ORPHA:369
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hypoglycemia, Splenomegaly, Hepatomegaly OMIM:261750
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Impaired gluconeogenesis, Increased hepatic echogenicity, Hepatic steatosis, Hypoglycem... OMIM:261680
Coats Disease
Retinal detachment, Abnormal macular morphology, Abnormal retinal vascular morphology ORPHA:190
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Stickler Syndrome Type 2
Retinal detachment, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia OMIM:616113
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Failure to thrive ORPHA:91130
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoglycemia, Cryptorchidism ORPHA:2022
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, Hypoglycemia, Postprandial hy... OMIM:262190
Glycogen Storage Disease Ixc
Cirrhosis, Increased hepatic glycogen content, Hypoglycemia, Bile duct proliferation, Hepatomegal... OMIM:613027
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Failure to thrive, Hypoglycemia, Hepatomegaly OMIM:619048
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Thrombocytopenia, Hypoglycemia ORPHA:67048
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy OMIM:274270
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Hypoglycemia, Decreased body weight, Neonatal hypoglycemia ORPHA:231140
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Martinez-Frias Syndrome
Pancreatic hypoplasia, Annular pancreas, Hypoplasia of the gallbladder, Extrahepatic biliary duct... OMIM:601346
Perching Syndrome
Cyanosis OMIM:617055
Acth Deficiency, Isolated
Fasting hypoglycemia, Jaundice, Cholestasis, Adrenocorticotropic hormone deficiency OMIM:201400
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Large for gestational age, Hyperinsulinemic hypoglycemia,... ORPHA:79644
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
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Mehmo Syndrome
Small for gestational age, Hypoglycemia, Obesity, Decreased response to growth hormone stimulatio... OMIM:300148
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Death in childhood, Hepatomegaly OMIM:246900
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Death in infancy, Jaundice, Failure to thrive, Hypoglycemia OMIM:617049
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Failure to thrive, Ketotic hypoglycemia ORPHA:26792
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Hypoglycemia, Pancreatitis, Death in infancy OMIM:619386
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... OMIM:133780
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Jaundice, Abnor... ORPHA:93111
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Propionic Acidemia
Hypoglycemia, Hepatomegaly ORPHA:35
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Neonatal death, Hepatosplenomegaly OMIM:273680
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia, Premature skin wrinkling OMIM:617950
Joubert Syndrome 22
Retinal dysplasia, Coloboma OMIM:615665
Joubert Syndrome 16
Retinal dystrophy, Coloboma OMIM:614465
Cataract 21, Multiple Types
Macular hypoplasia, Iris coloboma, Retinal detachment OMIM:610202
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia ORPHA:231147
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Hypoglycemia, Hepatomegaly, Cryptorchidism OMIM:618958
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hepatomegaly OMIM:306000
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... OMIM:610199
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Obesity-Hypoventilation Syndrome
Cyanosis, Obesity OMIM:257500
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly OMIM:614741
Insulinoma
Hyperinsulinemia, Abnormality of the pancreatic islet cells, Nonketotic hypoglycemia, Hyperinsuli... ORPHA:97279
Apnea, Central Sleep
Cyanosis OMIM:207720
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss... ORPHA:103918
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Neonatal hypoglycemia, Failure to thrive, Macrocytic anemia, Splenomegaly OMIM:619046
Galactokinase Deficiency
Hyperinsulinemia, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Hypoglycemia,... ORPHA:79237
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Death in infancy, Hepatomegaly, Cryptorchidism, Neonatal death OMIM:613730
Coach Syndrome 2
Hepatic fibrosis, Coloboma, Portal fibrosis, Chorioretinal coloboma, Congenital hepatic fibrosis OMIM:619111
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Abnormal upper motor neuron morphology, Spinocerebellar atrophy OMIM:215470
Glycogen Storage Disease Iii
Hepatic fibrosis, Hepatomegaly, Hypoglycemia OMIM:232400
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Reduced pancreatic beta cells, Neonatal insulin-dependent diabetes mellitu... ORPHA:99885
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia, Hepatomegaly, Cholestatic liver disease ORPHA:5
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Large for gestational age, Hyperinsulinem... ORPHA:263455
Hypoadrenocorticism, Familial
Cyanosis, Hypoglycemia OMIM:240200
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn cell morphology, C... OMIM:611890
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis ORPHA:71277
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia, Cyanosis ORPHA:621
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Chronic Pneumonitis Of Infancy
Cyanosis, Failure to thrive, Hypoxemia, Mediastinal lymphadenopathy ORPHA:91359
Temple Syndrome
Decreased response to growth hormone stimulation test, Small for gestational age, Type II diabete... ORPHA:254516
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Bone marrow hypocellularity, Hepatomegaly... ORPHA:811
Congenital Pulmonary Lymphangiectasia
Cyanosis, Splenomegaly, Hepatomegaly ORPHA:2414
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Failure to thrive, Hypoglycemia, Neonatal death, Death in childhood OMIM:245400
Pituitary Stalk Interruption Syndrome
Death in infancy, Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Cryptorchidism ORPHA:95496
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Retroperitoneal fibrosis, Facial telangiectasia, Decreased response to gro... OMIM:602782
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Failure to thrive OMIM:263000
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia ORPHA:163693
Glycerol Kinase Deficiency
Small for gestational age, Hypoglycemia, Cryptorchidism OMIM:307030
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Macular atrophy, Iris coloboma, Chorioretinal coloboma, Retinal detachment OMIM:212550
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Failure to thrive, Hypoglycemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancrea... OMIM:251000
Infantile Liver Failure Syndrome 2
Jaundice, Hypoglycemia OMIM:616483
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:2394
Abruzzo-Erickson Syndrome
Iris coloboma, Coloboma, Chorioretinal coloboma, Cryptorchidism ORPHA:921
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia ORPHA:289504
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:94086
Orthostatic Hypotension 2
Anemia, Hypoglycemia OMIM:618182
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cirrhosis, Microvesicular hepatic steatosis, Anemia, Polysplenia, Macronodular cirrhosis, Neonata... OMIM:619418
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Jaundice, ... OMIM:251880
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Decreased testicular size, Bruising ... ORPHA:335
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly OMIM:266150
Dextrocardia
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia ORPHA:1666
Propionic Acidemia
Anemia, Pancytopenia, Failure to thrive, Hypoglycemia, Hepatomegaly, Thrombocytopenia, Neutropeni... OMIM:606054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Death in childhood, Coloboma OMIM:613153
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Encephalopathy, Ethylmalonic
Failure to thrive, Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Hypoplastic optic chiasm, Optic nerve hypoplasia OMIM:615113
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenal hyperplasia OMIM:201910
Congenital Isolated Acth Deficiency
Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice, Neonatal hypoglycemia ORPHA:199296
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Failure to thrive, Postprandial hyperglycemia, Ketotic hypoglycemia ORPHA:2089
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia OMIM:615160
Donohue Syndrome
Hepatic fibrosis, Hyperinsulinemia, Severe failure to thrive, Cholestasis, Postprandial hyperglyc... OMIM:246200
Cryptogenic Organizing Pneumonia
Cyanosis, Weight loss, Neutrophilia, Hypoxemia, Leukocytosis ORPHA:1302
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Decreased body weight, Hyperinsulinemic hypoglycemia, Thrombocytopenia, Fastin... ORPHA:2298
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Iris coloboma OMIM:616722
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Decreased testicular size, Panhypopituitar... ORPHA:95619
Laron Syndrome
Prematurely aged appearance, Hypoglycemia, Truncal obesity ORPHA:633
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Hypop... OMIM:600501
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Neonatal death, Hypoglycemia, Death in infancy OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Neonatal death, Hypoglycemia, Death in infancy OMIM:618839
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Anemia, Abnormal erythrocyte enzyme level, Portal fibrosis, Hepatic ... ORPHA:264580
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypoinsulinemia,... ORPHA:2126
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Failure to thrive, Hypoglycemia ORPHA:79096
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Death in infancy, Hypoglycemia, Thrombocytopenia, Death in chil... OMIM:611126
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Small for gestational age, Neonatal hypoglycemia, Failure to thrive, Hypoglycem... OMIM:619055
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Failure to thrive, Hypoglycemia OMIM:614702
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hypoglycemia ORPHA:231137
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Acrocyanosis, Glucose intolerance, Impaired glucose tolerance OMIM:614407
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Small for gestational age, Maternal diabetes, Hypoxemia, Failure to thrive, Hepatomegaly ORPHA:860
Srd5A3-Cdg
Rod-cone dystrophy, Decreased response to growth hormone stimulation test, Coloboma, Optic atroph... ORPHA:324737
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Jaundice, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Neonatal death, Hepatic peri... OMIM:231680
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Impaired glucose tolerance, Glycosuria, Biliary tract abnormality, Maturit... OMIM:137920
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Failure to thrive, Neonatal death, Death in infancy OMIM:265120
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology OMIM:613724
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hypoglycemia, Cryptorchidism OMIM:614736
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia OMIM:250800
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemia, Cachexia, Hepatomegaly ORPHA:42
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Hypoglycemia, Acute hepatic steatosis OMIM:210200
Carnitine Deficiency, Systemic Primary
Microvesicular hepatic steatosis, Impaired gluconeogenesis, Decreased carnitine level in liver, F... OMIM:212140
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Large for gestational age, Diabetes mellitus, Hypoglycemia, Hepatomegaly OMIM:616026
Microphthalmia, Isolated 4
Absent testis, Coloboma OMIM:613094
Sepsis In Premature Infants
Cyanosis, Anemia, Decreased body weight, Petechiae, Small for gestational age, Jaundice, Purpura,... ORPHA:90051
Cog8-Cdg
Failure to thrive, Hypoglycemia, Spontaneous hematomas ORPHA:95428
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Hyperglycemia, Maturity-onset diabete... OMIM:609812
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Fasting hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:159
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Tricuspid Atresia
Cyanosis ORPHA:1209
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia, Elevated circulating luteinizing hormone level OMIM:250790
Eosinophilic Fasciitis
Acrocyanosis, Abnormal eosinophil morphology, Weight loss, Eosinophilia ORPHA:3165
Fanconi-Bickel Syndrome
Abnormal hepatic glycogen storage, Impaired glucose tolerance, Glycosuria, Hepatocellular carcino... ORPHA:2088
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice, Neonatal death, Hypoglycemia OMIM:228100
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Anemia, Death in childhood, Hepatomegaly, Hypoglycemia OMIM:246450
Classic Galactosemia
Jaundice, Abnormal erythrocyte enzyme level, Hypoglycemia, Hepatomegaly, Cryptorchidism ORPHA:79239
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Insulin resistance, Failure to thrive, Hypoglycemia, Truncal obesity ORPHA:73272
Mirage Syndrome
Leukopenia, Anemia, Decreased body weight, Petechiae, Decreased testicular size, Lymphopenia, Hyp... OMIM:617053
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Decreased body weight, Small for gestational age, Dorsocervical fat pad, Diabetes mellitus, Hypog... ORPHA:391408
Buerger Disease
Acrocyanosis ORPHA:36258
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Hyperimmunoglobulinemia D With Periodic Fever
Purpura, Acrocyanosis, Lymphadenopathy, Hepatomegaly, Erythema, Peritonitis, Urticaria ORPHA:343
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Multiple Endocrine Neoplasia, Type I
Increased circulating prolactin concentration, Parathyroid adenoma, Adenoma sebaceum, Pituitary a... OMIM:131100
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:600649
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Anemia, Ketotic hypoglycemia, Hepatocellular carcinoma, Polycystic o... ORPHA:79240
Ethylmalonic Encephalopathy
Failure to thrive, Acrocyanosis, Petechiae ORPHA:51188
Microphthalmia, Syndromic 5
Coloboma, Retinal dystrophy, Optic nerve hypoplasia, Ectopic posterior pituitary, Cryptorchidism OMIM:610125
Smith-Kingsmore Syndrome
Thrombocytopenia, Large for gestational age, Hypoglycemia, Cryptorchidism OMIM:616638
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatic necrosis, Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Death in infancy, Jaundice, Failure to thrive, Hypog... OMIM:617156
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Cervical spinal c... ORPHA:35689
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Recurrent hypoglycemia, Prominent superficial veins, Cryptorchidism OMIM:616817
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Hepatomegaly OMIM:201450
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Small for gestational age, Testicular semi... OMIM:180860
Double Outlet Right Ventricle
Aplasia/Hypoplasia of the thymus, Failure to thrive, Hypoparathyroidism, Cyanosis ORPHA:3426
Pituitary Hormone Deficiency, Combined, 2
Panhypopituitarism, Neonatal hypoglycemia, Reduced circulating prolactin concentration, Decreased... OMIM:262600
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Hepatomegaly ORPHA:156
Pituitary Hormone Deficiency, Combined, 6
Posterior pituitary hypoplasia, Neonatal hypoglycemia, Ectopic posterior pituitary, Decreased thy... OMIM:613986
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Failure to thrive in infancy ORPHA:284417
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypoglycemia, Neutropenia OMIM:618253
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Jaundice, Failure to thrive, Hypoglycemia, Hepatomegaly, Splenomegaly, Excessiv... OMIM:608779
African Iron Overload
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... ORPHA:139507
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Decreased testicular size, Type II diabetes mellitus, Hypoglycemia... ORPHA:453533
Hsd10 Disease, Infantile Type
Cyanosis, Hypoglycemia ORPHA:391428
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Glycosuria, Failure to thrive, Diabet... OMIM:600001
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Portal ... ORPHA:370
Autosomal Dominant Keratitis
Macular hypoplasia, Hypoplasia of the fovea, Coloboma, Aniridia ORPHA:2334
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Death in infancy, Hepatocellular necrosis, Nonketotic hypoglycemia, Hepatic ... OMIM:201475
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Severe failure to thrive, Cryptorchidism ORPHA:3304
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Neonatal hypoglycemia OMIM:606407
Acquired Methemoglobinemia
Cyanosis, Methemoglobinemia, Hypoxemia ORPHA:464453
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia,... ORPHA:71212
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Jaundice, Adrenal hyperplasia, Failure to thrive, Hypoglycemia ORPHA:90790
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Hypoglycemia, Neonatal hypoglycemia, Hepatomegaly OMIM:212138
Liver Disease, Severe Congenital
Portal inflammation, Hyperinsulinemic hypoglycemia, Hepatic steatosis, Hepatomegaly, Thrombocytop... OMIM:619991
Glutaric Acidemia I
Failure to thrive, Hypoglycemia, Hepatomegaly OMIM:231670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration, Coloboma OMIM:615249
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Hepatocellular necrosis, Jaundice, Hepatocellular ca... OMIM:256810
Late-Onset Isolated Acth Deficiency
Weight loss, Hepatitis, Normocytic anemia, Pituitary adenoma, Type I diabetes mellitus, Failure t... 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, Hepatocellular carcinoma, Hypoglycemia, Pancreatic fibrosis, Hepatomegaly, Neutrope... OMIM:232220
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Failure to thrive ORPHA:444013
Asbestos Intoxication
Cyanosis, Hypoxemia, Oxygen desaturation on exertion, Mediastinal lymphadenopathy ORPHA:2302
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Fasting hypoglycemia ORPHA:348
Marcus-Gunn Syndrome
Morning glory anomaly, Coloboma, Abnormal fifth cranial nerve morphology ORPHA:91412
Fucosidosis
Abnormality of the gallbladder, Acrocyanosis, Failure to thrive, Hepatomegaly, Vascular skin abno... ORPHA:349
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Shigellosis
Microangiopathic hemolytic anemia, Peritonitis, Purpura, Hypoglycemia, Cholestasis, Leukocytosis,... ORPHA:810
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Glucocorticoid Deficiency 1
Failure to thrive, Recurrent hypoglycemia OMIM:202200
Silver-Russell Syndrome Due To A Point Mutation
Small for gestational age, Hypoglycemia, Cryptorchidism ORPHA:397590
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Beta-Ketothiolase Deficiency
Weight loss, Hypoglycemia, Thrombocytosis, Leukocytosis, Hepatomegaly, Hyperglycemia ORPHA:134
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatic calcification, Diabetes mellitus, Exocrine pancreatic insuffici... OMIM:167800
Primary Pulmonary Hypoplasia
Cyanosis, Failure to thrive, Hypoxemia ORPHA:2257
Bachmann-Bupp Syndrome
Hypoglycemia, Large for gestational age, Cryptorchidism OMIM:619075
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Proprotein Convertase 1/3 Deficiency
Obesity, Reactive hypoglycemia OMIM:600955
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Hypoglycemia OMIM:618838
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Abnormal motor neuron morphology, Amyotrophic lateral sclerosis ORPHA:52430
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Neonatal death, Polys... OMIM:208540
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Hepatomegaly OMIM:229700
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Failure to thrive, Hypoketotic hypoglycemia, Cholestasis OMIM:609015
Hepatocellular Carcinoma
Anemia, Abnormality of the liver, Weight loss, Liver abscess, Hepatic necrosis, Jaundice, Type II... ORPHA:88673
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Anemia, Weight loss, Jaundice, Nonketotic hypoglycemia, Acute pancreatitis, Thrombocy... ORPHA:20
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Death in infancy, Hypoxemia, Failure to thrive, Neonatal death OMIM:610921
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Cyanosis, Hypoxemia, Hepatomegaly ORPHA:555874
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism ORPHA:2849
Acute Interstitial Pneumonia
Cyanosis, Lymphadenopathy, Reduced hematocrit, Hypoxemia ORPHA:79126
Congenital Disorder Of Glycosylation, Type Iq
Coloboma, Optic atrophy OMIM:612379
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia ORPHA:70587
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Biliary hyperplasia, B lymphocytopenia, Failure to thrive, Severe B lympho... ORPHA:83617
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Coloboma, Optic atrophy, Optic nerve hypoplasia ORPHA:370959
Aicardi-Goutieres Syndrome 1
Prolonged neonatal jaundice, Petechiae, Purpura, Acrocyanosis, Hepatomegaly, Erythema, Thrombocyt... OMIM:225750
Nephrotic Syndrome, Type 14
Hypoglycemia, Lymphopenia, Cryptorchidism OMIM:617575
Pituitary Apoplexy
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:95613
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic steatosis OMIM:618329
Timothy Syndrome
Hypoglycemia OMIM:601005
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly OMIM:255120
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Myasthenia Gravis
Hemolytic anemia, Hepatitis, Glycosuria, Acrocyanosis, Abnormality of the thymus, Pure red cell a... ORPHA:589
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia, Hypoglycemia OMIM:617710
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Nonketotic hypoglycemia, Hypoglycemia, Hepatic calcification, Hepatomegaly, Lip... OMIM:608836
Aceruloplasminemia
Hepatic fibrosis, Cirrhosis, Retinal degeneration, Macular degeneration, Abnormality of retinal p... ORPHA:48818
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Death in infancy, Failure to thrive, Hypoglycemia, Hepatomegaly, Splenomegaly OMIM:252010
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Small for gestational age, Jaundice, Overweight, Hepatomegaly, Obesity ORPHA:26793
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Hypoxemia, Weight loss ORPHA:747
Coach Syndrome 1
Hepatic fibrosis, Cirrhosis, Coloboma, Intrahepatic bile duct dilatation, Hepatomegaly, Portal hy... OMIM:216360
Glycogen Storage Disease Ia
Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly, Fasting hypoglycemia, Pancreatitis OMIM:232200
Sheehan Syndrome
Abnormal size of pituitary gland, Gonadotropin deficiency, Panhypopituitarism, Reduced circulatin... ORPHA:91355
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Silver-Russell Syndrome
Decreased testicular size, Cachexia, Insulin resistance, Recurrent hypoglycemia, Cryptorchidism, ... ORPHA:813
Tyrosinemia, Type I
Cirrhosis, Anemia, Hepatocellular carcinoma, Failure to thrive, Hypoglycemia, Hepatomegaly, Pancr... OMIM:276700
Poems Syndrome
Increased circulating prolactin concentration, Weight loss, Acrocyanosis, Polycythemia, Diabetes ... ORPHA:2905
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Coloboma, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormalit... ORPHA:85167
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Acrocyanosis, Cryptorchidism ORPHA:1867
Immunodeficiency 59 And Hypoglycemia
Prolonged neonatal jaundice, Decreased proportion of class-switched memory B cells, Hepatomegaly,... OMIM:233600
D-Glyceric Aciduria
Failure to thrive, Hypoglycemia OMIM:220120
Immunodeficiency, Common Variable, 10
Hypoglycemia, Decreased response to growth hormone stimulation test OMIM:615577
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Hepatic periportal necrosis, Hepatomegaly, Hypoglycemia ORPHA:26791
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Periportal fibrosis, Cholangitis, Hepatic steatosis, Failure to... OMIM:124000
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Pulmonary Arteriovenous Malformation
Cyanosis, Telangiectasia, Liver abscess, Hypoxemia, Iron deficiency anemia ORPHA:2038
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Failure to thrive, Thrombocytopenia, Nonketotic hypoglycemia ORPHA:99901
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Neonatal hypoglycemia OMIM:617600
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Weight loss, Testicular adrenal rest tumor, Ketotic hypoglycemia, Failure ... ORPHA:361
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Diffuse hepatic steatosis, Hypoparathyroidism, Cholestasis, Failure to ... ORPHA:746
Tetrasomy 5P
Cyanosis, Failure to thrive ORPHA:3309
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Anemia, Hepatocellular carcinoma, Abnormal myeloid leukocyte morphology, Bru... ORPHA:79259
Dravet Syndrome
Cyanotic episode ORPHA:33069
Intellectual Developmental Disorder, Autosomal Dominant 35
Hypoglycemia OMIM:616355
Pulmonary Capillary Hemangiomatosis
Cyanosis, Lymphadenopathy, Hypoxemia, Mediastinal lymphadenopathy ORPHA:199241
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
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Death in infancy, Jaundice, Neonatal hypoglycemia, Failure to thrive, Neutropenia OMIM:617248
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy ORPHA:488627
Acquired Purpura Fulminans
Macular purpura, Thrombocytopenia, Acrocyanosis ORPHA:49566
Isolated Complex I Deficiency
Failure to thrive, Hypoglycemia, Diabetes mellitus, Hepatomegaly ORPHA:2609
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Histiocytoid Cardiomyopathy
Cyanosis, Failure to thrive, Polycystic ovaries, Hypoglycemia, Hepatomegaly ORPHA:137675
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:228305
Congenital Disorder Of Glycosylation, Type It
Hepatitis, Intrahepatic cholestasis, Hepatic steatosis, Increased hepatic glycogen content, Hypog... OMIM:614921
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Premature graying of hair, Impaired glucose tolerance, Diabetic ketoacidosi... ORPHA:769
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Hepatic steatosis, Infection associated neutropenia, Bone marrow hypocellu... ORPHA:445038
Fructose Intolerance, Hereditary
Cirrhosis, Glycosuria, Jaundice, Hepatic steatosis, Failure to thrive, Hypoglycemia, Hepatomegaly OMIM:229600
Deeah Syndrome
Anterior pituitary hypoplasia, Decreased body weight, Decreased response to growth hormone stimul... OMIM:619004
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:606070
Sotos Syndrome
Neonatal hypoglycemia, Cryptorchidism, Prolonged neonatal jaundice, Glucose intolerance, Increase... OMIM:117550
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Hypopituita... ORPHA:226307
Familial Multiple Lipomatosis
Chorioretinitis, Coloboma ORPHA:199276
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Hypoglycemia, Neutropenia OMIM:618005
Perlman Syndrome
Cryptorchidism, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:267000
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Hypoxemia OMIM:610910
Complete Atrioventricular Septal Defect
Cyanosis, Failure to thrive, Hepatomegaly ORPHA:1329
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Glycogen Storage Disease Ic
Spider hemangioma, Chronic pancreatitis, Hepatocellular carcinoma, Hepatoblastoma, Hypoglycemia, ... OMIM:232240
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Bilateral cryptorchidism, Decreased testicular size ORPHA:2326
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia, Death in infancy OMIM:619355
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Subcutaneous hemorrhage, Cachexia, Cutis marmorata, Hypoglycemia ORPHA:109
Addison Disease
Thymoma, Primary testicular failure, Weight loss, Normocytic anemia, Type I diabetes mellitus, Th... ORPHA:85138
Isolated Right Ventricular Hypoplasia
Cyanosis, Hypoxemia ORPHA:439
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased testicular size, Neonatal hypoglycemia, Congenital ... ORPHA:90791
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatosplenomegaly, Cholecystitis, Hypoglycemia, Hepatomegaly, Obesity, Cholelithiasis OMIM:301066
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Hypoglycemia OMIM:210210
Dopamine Beta-Hydroxylase Deficiency
Anemia, Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Polysplenia OMIM:616749
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Normochromic microcytic anemia, Bilateral cryptorchidism, Neona... ORPHA:66634
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Failure to thrive, Death in childhood, Death in infancy OMIM:618426
Cholera
Hypoglycemia, Palmoplantar cutis laxa, Miscarriage ORPHA:173
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Eosinophilic Granulomatosis With Polyangiitis
Weight loss, Purpura, Acrocyanosis, Cutis marmorata, Eosinophilia, Urticaria ORPHA:183
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Supernumerary nipple ORPHA:457279
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Anemia, Small for gestational age, Pancytopenia, Hepatic steatosis, Failure to thrive,... OMIM:613658
Meckel Syndrome 14
Cyanosis, Hepatic fibrosis OMIM:619879
Leprechaunism
Hyperinsulinemia, Decreased body weight, Reduced subcutaneous adipose tissue, Insulin resistance,... ORPHA:508
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Neonatal hypoglycemia, Hepatic steatosis, Thrombocytopenia, Neutropenia OMIM:616271
Tarp Syndrome
Cyanosis, Failure to thrive, Cryptorchidism, Extramedullary hematopoiesis ORPHA:2886
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Failure to thrive, Hypoxemia OMIM:610913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Coloboma, Optic atrophy, Retinal atrophy, Optic nerve hypoplasia, Retinal dysplasia, Cryptorchidi... OMIM:236670
Leigh Syndrome
Failure to thrive, Anemia, Neutropenia, Hypoglycemia ORPHA:506
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Jaundice, Failure to thrive, Hypoglycemia, Thrombocytopenia, Neutropenia ORPHA:79282
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia, Decreased response to growth hormone stimulation test, Telangiectasia of the skin OMIM:616007
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Pulmonary Alveolar Microlithiasis
Cyanosis, Testicular microlithiasis, Weight loss, Hypoxemia, Oxygen desaturation on exertion, Hep... ORPHA:60025
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Holoprosencephaly
Anterior hypopituitarism, Panhypopituitarism, Diabetes mellitus, Hypoglycemia, Cryptorchidism, Ab... ORPHA:2162
Congenital Myasthenic Syndrome
Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98914
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Autoimmu... ORPHA:293978
Pyruvate Carboxylase Deficiency
Hyperglycemia, Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:3008
Hereditary Fructose Intolerance
Jaundice, Reactive hypoglycemia, Hepatomegaly ORPHA:469
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Asplenia, Biliary atresia, Polysplenia, Failure to thrive, Hepatomegaly, Abdominal situ... OMIM:306955
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Cryptorchidism ORPHA:565624
Beckwith-Wiedemann Syndrome
Large for gestational age, Polycythemia, Hepatoblastoma, Neonatal hypoglycemia, Hypoglycemia, Pse... ORPHA:116
Choanal Atresia
Cyanosis ORPHA:137914
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Small for gestational age, Insulin resista... ORPHA:96182
Criss-Cross Heart
Cyanosis ORPHA:1461
Simpson-Golabi-Behmel Syndrome
Death in infancy, Polysplenia, Supernumerary nipple, Hepatoblastoma, Hypoglycemia, Cryptorchidism... ORPHA:373
Marburg Hemorrhagic Fever
Leukopenia, Petechiae, Jaundice, Reticulocytosis, Lymphopenia, Bruising susceptibility, Lymphaden... ORPHA:99826
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Hypoglycemia ORPHA:480864
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Hypoglycemia OMIM:614501
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Acute Adrenal Insufficiency
Failure to thrive, Hypoglycemia, Weight loss, Normocytic anemia ORPHA:95409
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:17
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon OMIM:601374
Esophageal Atresia
Small for gestational age, Cyanosis, Maternal diabetes, Failure to thrive in infancy ORPHA:1199
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cyanosis, Palate telangiectasia, Cirrhosis, Hepatic arteriovenous malformation, Anemia, Facial te... OMIM:600376
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Neonatal hypoglycemia OMIM:261740
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased respo... ORPHA:293987
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cyanosis, Palate telangiectasia, Cirrhosis, Hepatic arteriovenous malformation, Anemia, Nail bed ... OMIM:187300
Alg12-Cdg
B lymphocytopenia, Failure to thrive, Recurrent hypoglycemia, Cryptorchidism, Thrombocytopenia ORPHA:79324
Non-Acquired Panhypopituitarism
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased t... ORPHA:90695
Kabuki Syndrome 2
Decreased body weight, Neonatal hypoglycemia OMIM:300867
Arnold-Chiari Malformation Type Ii
Cyanosis ORPHA:1136
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia, Hepatic calcification, Hepatomegaly ORPHA:157
Acute Liver Failure
Hypocapnia, Hepatocellular necrosis, Hepatic necrosis, Jaundice, Hepatitis, Bruising susceptibili... ORPHA:90062
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia OMIM:616878
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Failure to thrive ORPHA:99106
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Menkes Disease
Prolonged neonatal jaundice, Spontaneous hematomas, Hypoglycemia ORPHA:565
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased testicular size, Neonatal hypoglycemia, Failure to ... ORPHA:168558
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic calcification, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:228308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Coloboma, Optic atrophy, Retinal atrophy, Retinal degeneration, Retinal... OMIM:253280
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased testicular size, Neonatal hypoglycemia, Failure to ... ORPHA:289548
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia, Neonatal hypoglycemia ORPHA:572798
Acro-Renal-Ocular Syndrome
Coloboma, Aganglionic megacolon, Optic disc hypoplasia, Iris coloboma, Chorioretinal coloboma, Op... ORPHA:959
Atrioventricular septal defect 3
Cyanosis OMIM:600309
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia ORPHA:35173
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Death in infancy, Small for gestational age, Failure to thrive,... OMIM:220111
Meckel Syndrome
Pancreatic cysts, Asplenia, Encephalocele, Anencephaly, Hydrocephalus, Lobar holoprosencephaly, C... ORPHA:564
Ethylene Glycol Poisoning
Cyanosis ORPHA:31826
Familial Dysautonomia
Acrocyanosis, Abnormality of the peritoneum ORPHA:1764
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Neonatal hypoglycemia, Hepatoblastoma, Hepatomegaly, Cryptorchidism OMIM:130650
Pitt-Hopkins Syndrome
Failure to thrive, Acrocyanosis, Supernumerary nipple, Cryptorchidism ORPHA:2896
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia, Adrenal hyperplasia ORPHA:786
Postinfectious Vasculitis
Weight loss, Palpable purpura, Acrocyanosis, Vasculitis in the skin, Cutis marmorata, Viral hepat... ORPHA:48435
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Acrocyanosis, Cutis marmorata, Hepatosplenomegaly, Diabetes mellitus,... ORPHA:51
Congenital Tracheomalacia
Cyanosis, Failure to thrive ORPHA:95430
Microphthalmia, Syndromic 3
Anterior pituitary hypoplasia, Coloboma, Optic nerve aplasia, Optic nerve hypoplasia, Cryptorchidism OMIM:206900
Igg4-Related Submandibular Gland Disease
Retroperitoneal fibrosis, Enlarged lacrimal glands, Cholangitis, Abnormality of the submandibular... ORPHA:449432
Thauvin-Robinet-Faivre Syndrome
Coloboma, Retinal coloboma OMIM:617107
Combined Pituitary Hormone Deficiencies, Genetic Forms
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased t... ORPHA:95494