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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
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... OMIM:615935
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Death in infancy, Diabetes mellitus, Hypoglycemia, Pancreati... 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
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... OMIM:615935
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... OMIM:260370
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Death in infancy, Diabetes mellitus, Hypoglycemia, Pancreati... OMIM:609069
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight ORPHA:314811
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia OMIM:613703
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Hypo... ORPHA:556955
Glycogen Storage Disease Vi
Hepatomegaly, Increased hepatic glycogen content, Failure to thrive in infancy, Hypoglycemia OMIM:232700
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Enlarged tonsils, Hypoglycemic seizures, Trun... ORPHA:293964
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration 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
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... ORPHA:324575
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Type I diabetes... OMIM:618500
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Annular pancreas,... ORPHA:2470
17Q12 Microdeletion Syndrome
Cryptorchidism, Diabetes mellitus, Pancreatic aplasia ORPHA:261265
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Congenital Glaucoma
Retinal detachment ORPHA:98976
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis OMIM:620357
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo... ORPHA:456312
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia, Anemia OMIM:610090
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... ORPHA:276580
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Bilia... ORPHA:2255
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypogly... ORPHA:276575
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Retinal dysplasia ORPHA:324416
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia OMIM:261750
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Fasting hypoglycemia ORPHA:171706
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Failure to thrive, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepa... ORPHA:369
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Hypoglycemia, Increased hepatic echogenicity, Fasting hypoglycemia, Impai... OMIM:261680
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Stickler Syndrome Type 2
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology ORPHA:90654
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Cyanosis ORPHA:91130
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypoglycemia, Failure to thrive, Hepatic steatosis OMIM:617872
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia ORPHA:664
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy OMIM:274270
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Glycogen Storage Disease Ixc
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Fasting hypoglycemi... OMIM:613027
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Failure to thrive, Hepatic steatosis, Hypoglycemia OMIM:619048
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Thrombocytopenia ORPHA:67048
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Acth Deficiency, Isolated
Cholestasis, Jaundice, Fasting hypoglycemia, Adrenocorticotropic hormone deficiency OMIM:201400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Perching Syndrome
Cyanosis OMIM:617055
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Decreased response to growth hormone stimulation test, O... OMIM:300148
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Hypoglycemia, Neonatal hypoglycemia, Decreased body weight ORPHA:231140
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
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
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Death in childhood OMIM:246900
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia ORPHA:26792
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Hypoglycemia, Jaundice, Cirrhosis, Failure to thrive OMIM:617049
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas... ORPHA:93111
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Hepatic steatosis, Pancreatitis, Hypoglycemia OMIM:619386
Combined Oxidative Phosphorylation Deficiency 36
Premature skin wrinkling, Failure to thrive, Hypoglycemia OMIM:617950
Joubert Syndrome 22
Coloboma, Retinal dysplasia OMIM:615665
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... ORPHA:97279
Joubert Syndrome 16
Coloboma, Retinal dystrophy OMIM:614465
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia, Iris coloboma OMIM:610202
Obesity-Hypoventilation Syndrome
Cyanosis, Obesity OMIM:257500
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia ORPHA:231147
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly, Hypoglycemia OMIM:306000
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Joubert Syndrome 15
Retinopathy, Coloboma, Retinal dystrophy OMIM:614464
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Failure to thrive, Hypoglycemia, Cryptorchidism OMIM:618958
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Macrocytic anemia, Splenomegaly, Failure to thrive, Neonatal hypoglycemia OMIM:619046
Galactokinase Deficiency
Hepatomegaly, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Fail... ORPHA:79237
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, ... OMIM:610199
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Cerebellar atrophy, Spinocerebellar atrophy OMIM:215470
Coach Syndrome 2
Congenital hepatic fibrosis, Coloboma, Portal fibrosis, Hepatic fibrosis, Chorioretinal coloboma OMIM:619111
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Death in infancy, Hepatomegaly, Cryptorchidism, Neonatal death OMIM:613730
Glycogen Storage Disease Iii
Hepatomegaly, Hepatic fibrosis, Hypoglycemia OMIM:232400
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Weight loss, Glycosuria, Pancreatic hypoplasia, Hyp... ORPHA:99885
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia ORPHA:5
Hypoadrenocorticism, Familial
Cyanosis, Hypoglycemia OMIM:240200
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pan... ORPHA:263455
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis ORPHA:71277
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Hereditary Methemoglobinemia
Methemoglobinemia, Cyanosis, Small for gestational age ORPHA:621
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Cyanosis ORPHA:2414
Chronic Pneumonitis Of Infancy
Hypoxemia, Mediastinal lymphadenopathy, Failure to thrive, Cyanosis ORPHA:91359
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:254516
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Cryptorchidism, Abnormal anterior horn cell morphology, N... OMIM:611890
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Hypoglycemia, Death in childhood, Neonatal death, Failure to thrive OMIM:245400
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Retroperitoneal fibrosis, Sp... OMIM:602782
Pituitary Stalk Interruption Syndrome
Death in infancy, Ectopic posterior pituitary, Hypoglycemia, Cryptorchidism, Failure to thrive ORPHA:95496
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Cyanosis OMIM:263000
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia ORPHA:163693
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures OMIM:620211
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Iris coloboma OMIM:212550
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia ORPHA:289504
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:2394
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Neonatal hypoglycemia... OMIM:619418
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Leukopenia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocyto... OMIM:251000
Infantile Liver Failure Syndrome 2
Jaundice, Hypoglycemia OMIM:616483
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Jaundice, Micronodular cirrhosis, ... OMIM:251880
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Propionic Acidemia
Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Neutropenia, Failure to thrive, Pancr... OMIM:606054
Dextrocardia
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia ORPHA:1666
Encephalopathy, Ethylmalonic
Death in infancy, Failure to thrive, Acrocyanosis, Petechiae OMIM:602473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Coloboma, Death in childhood OMIM:613153
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Splenic rupture, Bruising susceptibility, Decreased testicula... ORPHA:335
Abruzzo-Erickson Syndrome
Coloboma, Iris coloboma, Chorioretinal coloboma, Cryptorchidism ORPHA:921
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice ORPHA:199296
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia OMIM:201910
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia OMIM:615160
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Iris coloboma OMIM:616722
Cryptogenic Organizing Pneumonia
Neutrophilia, Cyanosis, Leukocytosis, Weight loss, Hypoxemia ORPHA:1302
Donohue Syndrome
Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cell hyperplasia,... OMIM:246200
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Fasting hypogly... ORPHA:2298
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy, Hypoglycemia, Anemia OMIM:618835
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypoglycemia, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adeno... ORPHA:264580
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Hypoglycemia, Anemia OMIM:618839
Laron Syndrome
Truncal obesity, Prematurely aged appearance, Hypoglycemia ORPHA:633
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... OMIM:600501
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Glucose intolerance, Failure to thrive, Acrocyanosis, Impaired glucose tolerance OMIM:614407
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Hypoglycemia, Microvesicular hepatic steatosis, Death in childhood, Thrombocyto... OMIM:611126
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Small for gestational age, Hypoglycemia, Death in adolescence, Death in childho... OMIM:619055
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Failure to thrive, Hypoglycemia ORPHA:79096
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Hypoglycemia OMIM:614702
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Cyanosis, Small for gestational age, Maternal diabetes, Hypoxemia, Failure to thrive ORPHA:860
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hypoglycemia ORPHA:231137
Srd5A3-Cdg
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Optic atrophy, Colo... ORPHA:324737
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Neonatal death, Hepatic periportal necrosis, He... OMIM:231680
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Cachexia, Hypoglycemia ORPHA:42
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Biliary trac... OMIM:137920
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Recurrent hypoglycemia, Impaired gluconeogenesis,... OMIM:212140
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy, Failure to thrive, Cyanosis OMIM:265120
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Ab... ORPHA:95619
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Sepsis In Premature Infants
Hepatomegaly, Cyanosis, Small for gestational age, Splenomegaly, Jaundice, Leukocytosis, Neutrope... ORPHA:90051
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia OMIM:250800
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... OMIM:609812
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestational age, Glycosuria OMIM:616026
Classic Galactosemia
Hepatomegaly, Hypoglycemia, Abnormal erythrocyte enzyme level, Cryptorchidism, Jaundice ORPHA:79239
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Cyanosis, Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Hypoglycemia, Intrahepatic cholestasis, Jaundice, Hepatic fibrosis, Fa... OMIM:617093
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Cog8-Cdg
Spontaneous hematomas, Failure to thrive, Hypoglycemia ORPHA:95428
Tricuspid Atresia
Cyanosis ORPHA:1209
Silver-Russell Syndrome 1
Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly... OMIM:180860
Eosinophilic Fasciitis
Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Anemia, Death in childhood OMIM:246450
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia, Elevated circulating luteinizing hormone level OMIM:250790
Buerger Disease
Acrocyanosis ORPHA:36258
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Failure to thrive, Hypoglycemia OMIM:614736
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased hepatic glycogen content, ... ORPHA:2088
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Erythema, Lymphadenopathy, Urticaria, Acrocyanosis, Purpura ORPHA:343
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Small for gestational age, Dorsocervical fat pad, Hypoglycemia, Decreased body... ORPHA:391408
Microphthalmia, Isolated 4
Coloboma, Absent testis OMIM:613094
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:201450
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Mirage Syndrome
Hypoglycemia, Cryptorchidism, Thrombocytopenia, Anemia, Leukopenia, Decreased body weight, Hypopl... OMIM:617053
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Ethylmalonic Encephalopathy
Failure to thrive, Acrocyanosis, Petechiae ORPHA:51188
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Ketotic hypoglycemia, Splenomegaly, Hepatocellular adenoma, Increased body weight, ... ORPHA:79240
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive ORPHA:73272
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism, Coloboma OMIM:610125
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypoglycemia OMIM:600649
High Altitude Pulmonary Edema
Hypoxemia, Leukocytosis, Cyanosis ORPHA:330012
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Hepatic necrosis, Hypoketotic hypoglycemia OMIM:231530
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Failure to thrive in infancy ORPHA:284417
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosi... OMIM:617156
Double Outlet Right Ventricle
Hypoparathyroidism, Failure to thrive, Cyanosis, Aplasia/Hypoplasia of the thymus ORPHA:3426
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Hyperg... OMIM:600001
Hsd10 Disease, Infantile Type
Cyanosis, Hypoglycemia ORPHA:391428
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypoglycemia, Neutropenia OMIM:618253
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia ORPHA:156
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin ratio ORPHA:94086
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Prominent superficial veins, Small for gestational age, Recurrent hypoglycemia OMIM:616817
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Type I diabetes mellitus, D... OMIM:616113
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Death in infancy, Hepatocellular necrosis, Periportal fibr... OMIM:201475
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Methemoglobinemia ORPHA:464453
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Coloboma, Aniridia, Macular hypoplasia ORPHA:2334
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypoglycemia, Anterior pituitary hypoplasia, Type II diabetes mellitus, Decrease... ORPHA:453533
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Death in infancy, Hypoglycemia, Splenomegaly, Jaundice, Excessive wrinkled skin, Fa... OMIM:608779
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Smith-Kingsmore Syndrome
Cryptorchidism, Hypoglycemia, Thrombocytopenia, Large for gestational age OMIM:616638
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Neonatal hypoglycemia OMIM:606407
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Posterior pituitary hypoplasia, Hypoglycemia, Neonatal hypoglycemia OMIM:613986
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Glutaric Acidemia I
Hepatomegaly, Failure to thrive, Hypoglycemia OMIM:231670
Liver Disease, Severe Congenital
Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration, Pancreatic h... OMIM:619991
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cryptorchidism, Cyanosis ORPHA:3304
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia OMIM:212138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Retinal degeneration OMIM:615249
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Normocytic anemia, Macrocytic anemia, Hypoglycemia, Eosinophilia, Pituitary a... ORPHA:199299
Asbestos Intoxication
Hypoxemia, Mediastinal lymphadenopathy, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Hypoglycemic seizures, Panhypopituitarism, Reduced circulating prolactin c... OMIM:262600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Neutropenia, Hepatocellular carcin... OMIM:232220
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Cyanosis ORPHA:444013
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Jaundice,... OMIM:256810
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Marcus-Gunn Syndrome
Coloboma, Abnormal fifth cranial nerve morphology, Morning glory anomaly ORPHA:91412
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Acrocyanosis, Failure to thrive, Vascular skin abno... ORPHA:349
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Hypoglycemia, Jaundice, Macroorchidism, Failure to thrive ORPHA:90790
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Shigellosis
Failure to thrive in infancy, Hypoglycemia, Peritonitis, Leukocytosis, Cholestasis, Urticaria, Mi... ORPHA:810
Primary Pulmonary Hypoplasia
Hypoxemia, Failure to thrive, Cyanosis ORPHA:2257
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Death in infancy, Hypoglycemia OMIM:620300
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia ORPHA:348
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Failure to thrive OMIM:202200
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Hepatic steatosis, Abnormal motor neuron morphology ORPHA:52430
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Leukocytosis, Weight loss, Thrombocytosis, Hyperglycemia ORPHA:134
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Anemia OMIM:618838
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Splenomegaly, Thrombocytopenia, Erythema, Prolonged neonatal jaundice, Acrocyanosis... OMIM:225750
Bachmann-Bupp Syndrome
Cryptorchidism, Hypoglycemia, Large for gestational age OMIM:619075
Mitochondrial Trifunctional Protein Deficiency 1
Failure to thrive, Small for gestational age, Cholestasis, Hypoketotic hypoglycemia OMIM:609015
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Small for gestational age, Hypoglycemia ORPHA:397590
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis, Reduced hematocrit, Lymphadenopathy ORPHA:79126
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Jaundice, Leukocytosis, Lipid accumula... ORPHA:20
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Cyanosis, Hypoxemia, Neonatal death, Failure to thrive OMIM:610921
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis ORPHA:70587
Congenital Heart Block
Cyanosis ORPHA:60041
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Optic atrophy, Optic nerve hypoplasia, Coloboma ORPHA:370959
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Congenital Disorder Of Glycosylation, Type Iq
Coloboma, Optic atrophy OMIM:612379
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Hepatomegaly, Cyanosis, Small for gestational age ORPHA:555874
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B... ORPHA:83617
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Bile duct proliferation, Macrovesicular hepatic steatosis, Hypoglycemia OMIM:618329
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia OMIM:255120
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Thrombocytopenia OMIM:617710
Myasthenia Gravis
Hemolytic anemia, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Glycosuria, Acroc... ORPHA:589
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Death in infancy, Cyanosis, Hypoglycemia, Splenomegaly, Failure to thrive OMIM:252010
Aceruloplasminemia
Abnormality of retinal pigmentation, Abnormal pancreas morphology, Macular degeneration, Hepatic ... ORPHA:48818
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Death in infancy, Hypoglycemia, Lipid accumulation in hepa... OMIM:608836
Reni Syndrome
Cryptorchidism, Lymphopenia, Hypoglycemia OMIM:617575
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Failure to thrive, Small for gestational age, Hypoglycemia OMIM:607143
Coach Syndrome 1
Optic disc pallor, Hepatomegaly, Portal hypertension, Splenomegaly, Coloboma, Hepatic fibrosis, C... OMIM:216360
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Weight loss ORPHA:747
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Small for gestational age, Overweight, Jaundice, Obesity, Hypoketotic hypoglycemia ORPHA:26793
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatocellular carcinoma, Pancreatitis OMIM:232200
Pituitary Apoplexy
Hypoglycemia, Decreased response to growth hormone stimulation test, Elevated circulating growth ... ORPHA:95613
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Tyrosinemia, Type I
Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocel... OMIM:276700
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia... OMIM:227810
Poems Syndrome
Diabetes mellitus, Lymphadenopathy, Weight loss, Thrombocytosis, Acrocyanosis, Polycythemia, Incr... ORPHA:2905
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Decreased proportion of class-switched memory B cells, Hypoglycemia, Prolonged neon... OMIM:233600
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Hypoglycemia, Acute pancreatitis ORPHA:26791
Pulmonary Arteriovenous Malformation
Cyanosis, Liver abscess, Telangiectasia, Hypoxemia, Iron deficiency anemia ORPHA:2038
Sheehan Syndrome
Hypoglycemia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... ORPHA:91355
Immunodeficiency, Common Variable, 10
Hypoglycemia, Decreased response to growth hormone stimulation test OMIM:615577
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Neonatal hypoglycemia OMIM:617600
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoglycemia OMIM:620275
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Cryptorchidism, Insulin resistance, Obesity, Recurrent hy... ORPHA:813
D-Glyceric Aciduria
Failure to thrive, Hypoglycemia OMIM:220120
Dravet Syndrome
Cyanotic episode ORPHA:33069
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Failure to thrive, Hepatic steatosis, Thrombocytopenia ORPHA:99901
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibrosis, Re... OMIM:124000
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Mediastinal lymphadenopathy, Cyanosis, Lymphadenopathy ORPHA:199241
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Diffuse hepatic steatosis, Hypoket... ORPHA:746
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Hypoglycemia, Chronic neutropenia, Hepatocellular adenoma, Hypog... ORPHA:79259
Tetrasomy 5P
Failure to thrive, Cyanosis ORPHA:3309
Isolated Complex I Deficiency
Hepatomegaly, Diabetes mellitus, Failure to thrive, Hypoglycemia ORPHA:2609
Hereditary Bullous Dystrophy, Macular Type
Cryptorchidism, Acrocyanosis, Decreased testicular size ORPHA:1867
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Failure to thrive, Hypoketotic hypoglycemia OMIM:610768
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy ORPHA:488627
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Jaundice, Neutropenia, Neonatal death, Failure to thrive, Neonatal hypoglycemia OMIM:617248
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Cryptorchidism, Testicular adrenal rest tumor, Hypoglycemic seizures, Weigh... ORPHA:361
Acquired Purpura Fulminans
Acrocyanosis, Thrombocytopenia, Macular purpura ORPHA:49566
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hypoglycemia, Intrahepatic cholestasis, Hepatitis, Chronic hepatitis, Increased hep... OMIM:614921
Histiocytoid Cardiomyopathy
Hepatomegaly, Cyanosis, Hypoglycemia, Polycystic ovaries, Failure to thrive ORPHA:137675
Deeah Syndrome
Hepatomegaly, Death in infancy, Decreased hemoglobin concentration, Decreased response to growth ... OMIM:619004
Familial Multiple Lipomatosis
Chorioretinitis, Coloboma ORPHA:199276
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Neonatal hypoglycemia, Large for gestational age ORPHA:457485
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia ORPHA:228305
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia, Hepatic steatosis, Ne... ORPHA:445038
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose tolerance, Insulin resist... ORPHA:769
Sotos Syndrome
Cryptorchidism, Increased body weight, Glucose intolerance, Prolonged neonatal jaundice, Neonatal... OMIM:117550
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Timothy Syndrome
Hypoglycemia OMIM:601005
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypoglycemia, Anterior pituitary hypoplasia, Decreased response to g... ORPHA:226307
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Hypoglycemia, Neutropenia OMIM:618005
Fructose Intolerance, Hereditary
Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failure to thrive, Hepatic steatosis OMIM:229600
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hepatoce... OMIM:232240
Glycerol Kinase Deficiency
Cryptorchidism, Small for gestational age, Hypoglycemia, Chronic pancreatitis OMIM:307030
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia, Large for gestational age OMIM:267000
Complete Atrioventricular Septal Defect
Hepatomegaly, Failure to thrive, Cyanosis ORPHA:1329
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Death in infancy, Hypoglycemia OMIM:619355
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Polysplenia OMIM:616749
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Hypoglycemia OMIM:210210
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Obesity, Hepatosplenomegaly, Cholecystitis, Cholelithiasis OMIM:301066
Addison Disease
Hypoparathyroidism, Normocytic anemia, Primary testicular failure, Hypoglycemia, Thiamine-respons... ORPHA:85138
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Bannayan-Riley-Ruvalcaba Syndrome
Cutis marmorata, Hypoglycemia, Cachexia, Telangiectasia, Subcutaneous hemorrhage ORPHA:109
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Adrenocorticotropic hormone excess, Failure to thrive, Congenital adrenal hyperpl... ORPHA:90791
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia, Anemia ORPHA:230
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Failure to thrive, Cyanosis, Death in childhood OMIM:618426
Kallmann Syndrome-Heart Disease Syndrome
Bilateral cryptorchidism, Cyanosis, Decreased testicular size ORPHA:2326
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Eosinophilia, Weight loss, Urticaria, Acrocyanosis, Purpura ORPHA:183
Cholera
Palmoplantar cutis laxa, Miscarriage, Hypoglycemia ORPHA:173
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Supernumerary nipple ORPHA:457279
Dilated Cardiomyopathy With Ataxia
Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Normoc... ORPHA:66634
Meckel Syndrome 14
Cyanosis, Hepatic fibrosis OMIM:619879
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Small for gestational age, Slender build, Portal hypertension, Hypoglycemia, Choles... OMIM:613658
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Failure to thrive, Cyanosis OMIM:610913
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins... ORPHA:508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Colob... OMIM:236670
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Leukopenia, Neutropenia, Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Hypoglycemia OMIM:616007
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Megaloblastic anemia, Jaundice, Neutropenia, Failure to thrive, Thrombocytopenia ORPHA:79282
Leigh Syndrome
Failure to thrive, Hypoglycemia, Anemia, Neutropenia ORPHA:506
Double Outlet Left Ventricle
Cryptorchidism, Failure to thrive, Cyanosis ORPHA:3427
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Cyanosis, Weight loss, Hypoxemia, Testicular microlithiasis, Oxygen desaturation on... ORPHA:60025
Tarp Syndrome
Extramedullary hematopoiesis, Cryptorchidism, Failure to thrive, Cyanosis ORPHA:2886
Choanal Atresia
Cyanosis ORPHA:137914
Holoprosencephaly
Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Cryptorchidism, Abnormality of the... ORPHA:2162
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Cyanosis, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia, Failure... OMIM:306955
Congenital Myasthenic Syndrome
Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98914
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Autoimmune throm... ORPHA:293978
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia ORPHA:3008
Hereditary Fructose Intolerance
Hepatomegaly, Jaundice, Reactive hypoglycemia ORPHA:469
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Neonatal hypoglycemia ORPHA:565624
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cryptorchidism, Hypoglycemia OMIM:620224
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:96182
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hypoglycemia, Large for gestational age, Cryptorchidism, Splenomegaly, Abnormal pan... ORPHA:116
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Failure to thrive, Hepatic steatosis, Hypoglycemia ORPHA:17
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Death in infancy, Hypoglycemia, Supernumerary nipple, Cryptorchidism, Splenomegaly,... ORPHA:373
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Hypoglycemia OMIM:614501
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemia, Hypoglycemic seizures ORPHA:480864
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Hypoglycemia, Orchitis, Thrombocytopenia, Jaundice, Neutrophilia in... ORPHA:99826
Esophageal Atresia
Cyanosis, Small for gestational age, Failure to thrive in infancy, Maternal diabetes ORPHA:1199
Criss-Cross Heart
Cyanosis ORPHA:1461
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Hypoglycemia, Weight loss ORPHA:95409
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Hepatic arteriovenous malformation, Cyanosis, Nail bed telangiectasi... OMIM:600376
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis OMIM:617478
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Hepatic arteriovenous malformation, Cyanosis, Telangiectasia of the ... OMIM:187300
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Neonatal hypoglycemia OMIM:261740
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone defi... ORPHA:293987
Alg12-Cdg
Cryptorchidism, Recurrent hypoglycemia, B lymphocytopenia, Failure to thrive, Thrombocytopenia ORPHA:79324
Kabuki Syndrome 2
Neonatal hypoglycemia, Decreased body weight OMIM:300867
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hepatic calcification, Hypoketotic hypoglycemia ORPHA:157
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... ORPHA:90695
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia OMIM:616878
Atrial Septal Defect, Ostium Primum Type
Failure to thrive, Cyanosis ORPHA:99106
Acute Liver Failure
Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, Hypocapnia, Hepatic... ORPHA:90062
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic steatosis, Hepatic calcification, Hypoketotic hypoglycemia ORPHA:228308
Menkes Disease
Spontaneous hematomas, Hypoglycemia, Prolonged neonatal jaundice ORPHA:565
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Coloboma, Hypoplasia of the retina, Retinal dysplasia, Retinal de... OMIM:253280
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Thrombocytopenia ORPHA:572798
Acro-Renal-Ocular Syndrome
Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Coloboma, Chorioretinal colobo... ORPHA:959
Familial Dysautonomia
Abnormal peritoneum morphology, Acrocyanosis ORPHA:1764
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenocorticotropic hormone exces... ORPHA:168558
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia ORPHA:35173
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenocorticotropic hormone exces... ORPHA:289548
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Small for gestational age, Hypoglycemia, Microvesicular hepatic steatosis, Hype... OMIM:220111
Ethylene Glycol Poisoning
Cyanosis ORPHA:31826
Meckel Syndrome
Accessory spleen, Encephalocele, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Cryp... ORPHA:564
Pitt-Hopkins Syndrome
Cryptorchidism, Failure to thrive, Acrocyanosis, Supernumerary nipple ORPHA:2896
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Hypoglycemia ORPHA:786
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cryptorchidism, Pancreatic hyperplasia, Hepatoblastoma, Neonatal hypoglycemia OMIM:130650
Aicardi-Goutières Syndrome
Diabetes mellitus, Cutis marmorata, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chr... ORPHA:51
Postinfectious Vasculitis
Viral hepatitis, Palpable purpura, Cutis marmorata, Orchitis, Weight loss, Vasculitis in the skin... ORPHA:48435
Congenital Tracheomalacia
Failure to thrive, Cyanosis ORPHA:95430
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Cryptorchidism, Coloboma OMIM:206900
Igg4-Related Submandibular Gland Disease
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas ... ORPHA:449432
Thauvin-Robinet-Faivre Syndrome
Coloboma, Retinal coloboma OMIM:617107
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Insulin resistance, Weight loss, Severe failure to... ORPHA:740
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Cyanosis ORPHA:99050
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... ORPHA:95494
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... ORPHA:64744
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypoglycemia, Weight loss ORPHA:3337
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Dermatomyositis
Abnormal eosinophil morphology, Telangiectasia of the skin, Erythema, Weight loss, Acrocyanosis, ... ORPHA:221
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Miscarriage, Testicular adrenal rest tumor, Weight loss, Hypocapnia, Failure to thrive, Decreased... ORPHA:90794
Primary Hyperoxaluria
Failure to thrive, Acrocyanosis, Cutis marmorata ORPHA:416
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Eisenmenger Syndrome
Hepatomegaly, Cyanosis, Hypochromic microcytic anemia, Hypoxemia, Iron deficiency anemia, Abnorma... ORPHA:97214
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... OMIM:610655
Costello Syndrome
Failure to thrive, Lymphangiectasis, Hypoglycemia OMIM:218040
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Generalized Arterial Calcification Of Infancy
Cyanosis, Failure to thrive in infancy, Pancreatic calcification, Hepatic calcification ORPHA:51608
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Slender build, Neonatal hypoglycemia, Large for gestational age ORPHA:457359
Yellow Fever
Acute pancreatitis, Neutrophilia, Leukocytosis, Jaundice, Pancreatic hyperplasia, Thrombocytopenia ORPHA:99829
Absence Of The Pulmonary Artery
Cyanosis, Hypocapnia ORPHA:980
Unilateral Polymicrogyria
Cyanosis ORPHA:268943
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Truncus Arteriosus
Cyanosis, Hypoplasia of the thymus ORPHA:3384
Neurooculorenal Syndrome
Cryptorchidism, Ectopic posterior pituitary, Recurrent hypoglycemia OMIM:620305
Goodpasture Syndrome
Cyanosis, Anemia, Weight loss OMIM:233450
Congenital Tracheal Stenosis
Cyanosis ORPHA:141127
Aortic Arch Interruption
Cyanosis ORPHA:2299
Congenitally Corrected Transposition Of The Great Arteries
Failure to thrive, Cyanosis ORPHA:216694
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small for gestational age, Hypoglycemia, Cryptorchidism, Polycystic ovaries, Ovarian cyst OMIM:201750
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata, Decreased body weight OMIM:303600
Holoprosencephaly 1
Hypoglycemia OMIM:236100
Sotos Syndrome
Cryptorchidism, Hydrocele testis, Acute lymphoblastic leukemia, Prolonged neonatal jaundice, Neon... ORPHA:821
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Cyanosis ORPHA:99125
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis ORPHA:285

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ptf1a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ptf1a.

No publications found that use IMPC mice or data for Ptf1a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ptf1atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ptf1atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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