Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
high mobility group box 1
Synonyms:
SBP-1,  HMG-1,  amphoterin,  Hmg1,  p30,  DEF

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hmgb1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hmgb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Gaba-Transaminase Deficiency
Lethargy, Downslanted palpebral fissures, Death in childhood OMIM:613163
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Let... ORPHA:276608
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Death in childhood OMIM:618683
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemi... ORPHA:276580
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Riboflavin Deficiency
Lethargy, Hypoglycemia OMIM:615026
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Neonatal Hemochromatosis
Blepharophimosis, Hypoglycemia ORPHA:446
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Hypoglycemia, Death in childhood OMIM:246900
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... ORPHA:276556
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia OMIM:610006
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Ptosis ORPHA:171706
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Typ... ORPHA:276575
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Meconium Aspiration Syndrome
Abnormal pulmonary thoracic imaging finding, Maternal diabetes, Atelectasis, Pneumothorax, Aspira... ORPHA:70588
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Death in childhood OMIM:618224
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Ketotic hypoglycemia ORPHA:26792
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Lethargy, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Combined Oxidative Phosphorylation Deficiency 17
Death in infancy, Postnatal growth retardation, Death in childhood, Intrauterine growth retardati... OMIM:615440
Developmental And Epileptic Encephalopathy 40
Lethargy, Hyaline membranes OMIM:617065
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Endocardial Fibroelastosis
Telecanthus, Hypoglycemia ORPHA:2022
Waardenburg Syndrome Type 3
Telecanthus, Atelectasis, Blepharophimosis, Downslanted palpebral fissures, Thick eyebrow ORPHA:896
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Glycine Encephalopathy 1
Lethargy, Death in infancy OMIM:605899
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Death in infancy, Synophrys, Long eyelashes, Death in childhood, Lethargy OMIM:619064
Early Myoclonic Encephalopathy
Lethargy, Recurrent respiratory infections ORPHA:1935
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Cachexia ORPHA:157973
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
N Syndrome
Abnormality of chromosome stability OMIM:310465
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... ORPHA:79126
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Pulmonary Blastoma
Weight loss ORPHA:64741
Tuberculosis
Weight loss ORPHA:3389
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Hypoglycemia, Death in infancy OMIM:619386
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Mitochondrial Complex I Deficiency, Nuclear Type 4
Death in childhood, Lethargy, Ptosis OMIM:618225
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Glycogen Storage Disease Vi
Hypoglycemia OMIM:232700
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Bilateral ptosis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Mitochondrial Pyruvate Carrier Deficiency
Epicanthus, Hypoglycemia OMIM:614741
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Asbestos Intoxication
Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morp... ORPHA:2302
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration ORPHA:70589
Immunodeficiency 54
Chromosome breakage OMIM:609981
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Recur... ORPHA:97279
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Hypoglycemia OMIM:618120
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy OMIM:610498
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Benign Samaritan Congenital Myopathy
Lethargy, Epicanthus ORPHA:324581
Infantile Liver Failure Syndrome 2
Lethargy, Hypoglycemia OMIM:616483
Mcdonough Syndrome
Short stature, Cachexia ORPHA:2471
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia ORPHA:293964
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Staphylococcal Necrotizing Pneumonia
Diabetes mellitus, Pneumonia, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumonia, Pl... ORPHA:36238
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Hjv Or Hamp-Related Hemochromatosis
Lethargy, Diabetes mellitus ORPHA:79230
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,... OMIM:610978
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Hypoketotic hypoglycemia OMIM:600649
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:620321
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Christianson Syndrome
Death in early adulthood, Cachexia ORPHA:85278
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures OMIM:620211
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Ptosis OMIM:613561
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Lethargy, Fasting hypoglycemia, Glycosuria, Hyperinsulinemic hypoglycemia, Neon... ORPHA:263455
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Folate-dependent fragile site at Xq28 ORPHA:85327
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Parenchym... ORPHA:2902
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morpholo... OMIM:620233
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
2P21 Microdeletion Syndrome
Long eyelashes, Hypoglycemia ORPHA:163693
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy, Ptosis ORPHA:101150
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Combined Oxidative Phosphorylation Deficiency 36
Upslanted palpebral fissure, Hypoglycemia OMIM:617950
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diabetes mellitus ORPHA:49827
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Atelectasis, Death in infancy OMIM:300219
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Hypoglycemia OMIM:201450
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Intrauterine growth retardation, Failure to thrive in infancy, Cachexia OMIM:616801
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Recurrent respiratory infections, Hypoglycemia ORPHA:364
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Hypoglycemia ORPHA:156
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema ORPHA:70587
Renpenning Syndrome
Growth delay, Severe short stature, Cachexia ORPHA:3242
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Hypoglycemia ORPHA:2394
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Cachexia ORPHA:1933
Severe Canavan Disease
Lethargy ORPHA:314911
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Maple Syrup Urine Disease
Lethargy, Hypoglycemia OMIM:248600
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Idiopathic Achalasia
Weight loss ORPHA:930
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Diarrhea 13
Recurrent hypoglycemia OMIM:620357
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Upslanted palpebral fissure, Long eyelashes, Hypoglycemia ORPHA:231137
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Recurrent upper respiratory tract infections, Hypoglycemia OMIM:620137
Propionic Acidemia
Hypoglycemia ORPHA:35
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Ptosis OMIM:618958
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Long eyelashes, Hypoglycemia ORPHA:48431
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Neonatal hypoglycemia ORPHA:231140
Pontocerebellar Hypoplasia, Type 6
Lethargy, Death in childhood OMIM:611523
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Carnitine Deficiency, Systemic Primary
Impaired gluconeogenesis, Recurrent hypoglycemia, Lethargy OMIM:212140
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Ptosis OMIM:312170
Tetrasomy 12P
Short stature, Cachexia ORPHA:884
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Ptosis OMIM:618226
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy, Epicanthus OMIM:250620
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Hypoglycemia OMIM:229700
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Cachexia OMIM:618186
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Wolman Disease
Growth delay, Cachexia ORPHA:75233
Mehmo Syndrome
Hypoglycemia OMIM:300148
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Aredyld Syndrome
Intrauterine growth retardation, Short stature, Cachexia ORPHA:1133
N-Acetylglutamate Synthase Deficiency
Lethargy OMIM:237310
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Lethargy, Death in infancy OMIM:201475
Classic Galactosemia
Lethargy, Hypoglycemia, Depression ORPHA:79239
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia ORPHA:371364
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Hypoglycemia OMIM:210200
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Hypoketotic hypoglycemia OMIM:255120
Central Diabetes Insipidus
Lethargy, Depression ORPHA:178029
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy ORPHA:28
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia ORPHA:702
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal death, Death in infancy, Hypoglycemia, Death in childhood OMIM:245400
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse eyelashes, Hypoglycemia, Blepharophimosis, Downslanted palpebral fissures,... OMIM:619075
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia ORPHA:42
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hypoglycemia, Neonatal hypoglycemia OMIM:212138
Silver-Russell Syndrome
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Obesity, Int... ORPHA:813
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy, Hypoglycemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Hypoglycemia OMIM:618839
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Chronic Hiccup
Weight loss ORPHA:396
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Neonatal hypoglycemia, Ptosis OMIM:619046
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy OMIM:618228
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Pyruvate Dehydrogenase Deficiency
Upslanted palpebral fissure, Lethargy, Epicanthus ORPHA:765
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia OMIM:619048
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Stillbirth, Death in childhood, Neonatal death, Lethargy OMIM:614922
Glycogen Storage Disease Iii
Hypoglycemia OMIM:232400
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Death in childhood, Lethargy, Ptosis OMIM:615838
Isaacs Syndrome
Weight loss ORPHA:84142
Huntington Disease-Like 2
Weight loss ORPHA:98934
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Houge-Janssens Syndrome 1
Downslanted palpebral fissures, Hypoglycemia, Ptosis OMIM:616355
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Lethargy, Neonata... ORPHA:71212
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
19Q13.11 Microdeletion Syndrome
Growth delay, Intrauterine growth retardation, Failure to thrive, Cachexia ORPHA:217346
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature OMIM:618160
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Apathy, Hypoglycemia, Death in childhood OMIM:246450
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Congenital Disorder Of Glycosylation, Type Ig
Epicanthus, Hypoglycemia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Leth... OMIM:607143
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia OMIM:617872
Propionic Acidemia
Lethargy, Hypoglycemia OMIM:606054
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
X-Linked Creatine Transporter Deficiency
Short stature, Cachexia ORPHA:52503
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Glycogen Storage Disease Ixb
Hypoglycemia OMIM:261750
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Hypoglycemia OMIM:251000
Multiple Acyl-Coa Dehydrogenase Deficiency
Telecanthus, Hypoglycemia, Pulmonary hypoplasia, Glycosuria, Neonatal death OMIM:231680
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Susac Syndrome
Lethargy, Apathy ORPHA:838
Farber Disease
Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory tract infections, Dif... ORPHA:333
Cyclic Vomiting Syndrome
Lethargy OMIM:500007
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Typhoid
Lethargy, Abnormal pulmonary interstitial morphology ORPHA:99745
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Pleural effusion, Hypoglycemia OMIM:617049
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pu... OMIM:610921
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Thick eyebrow, Fasting hypoglycemia ORPHA:436174
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Combined Oxidative Phosphorylation Deficiency 10
Pleural effusion, Hypoglycemia OMIM:614702
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Hemochromatosis, Neonatal
Hypoglycemia OMIM:231100
Shashi-Pena Syndrome
Epicanthus, Hypoglycemia, Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis OMIM:617190
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Congenital bilateral ptosis, Insulin resistance, Hypoglycemia, Ptosis ORPHA:73272
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Tenorio Syndrome
Telecanthus, Hypoglycemia, Recurrent pneumonia, Keratoconjunctivitis sicca, Hypoinsulinemia, Thic... OMIM:616260
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Epicanthus, Diabetes mellitus, Hypoglycemia, Synophrys, Downslanted palpebral fissures ORPHA:391408
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia OMIM:615160
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Lethargy, Death in infancy OMIM:605711
Ogden Syndrome
Lethargy, Pulmonary artery stenosis, Downslanted palpebral fissures, Aplasia/Hypoplasia of the ey... ORPHA:276432
Isolated Atp Synthase Deficiency
Lethargy, Ptosis ORPHA:254913
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Rett Syndrome
Short stature, Cachexia OMIM:312750
Basilicata-Akhtar Syndrome
Telecanthus, Epicanthus, Downslanted palpebral fissures, Neonatal hypoglycemia OMIM:301032
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... ORPHA:552
Cholera
Lethargy, Miscarriage, Hypoglycemia, Aspiration pneumonia ORPHA:173
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Necrotizing Enterocolitis
Lethargy, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia ORPHA:369
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Epicanthus, Long eyelashes, Broad lateral eyebrow, Neonatal hypoglycemia, Ptosis OMIM:608624
Xfe Progeroid Syndrome
Failure to thrive, Severe short stature, Cachexia, Death in adolescence OMIM:610965
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Death in infancy OMIM:614299
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy ORPHA:289916
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Isolated Complex I Deficiency
Lethargy, Diabetes mellitus, Hypoglycemia, Ptosis ORPHA:2609
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Impaired gluconeogenesis, Hypoglycemia, Fasting hypoglycemia OMIM:261680
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Ptosis OMIM:615453
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Ataxia-Telangiectasia
Abnormality of chromosome stability ORPHA:100
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy, Hypoketotic hypoglycemia OMIM:609015
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents OMIM:613951
Bone Marrow Failure Syndrome 3
Chromosome breakage OMIM:617052
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Death in infancy, Hypoglycemia OMIM:620300
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Solitary Fibrous Tumor
Hypoglycemia, Neoplasm of the lung, Recurrent hypoglycemia, Neoplasia of the pleura, Hypoinsulinemia ORPHA:2126
Isovaleric Acidemia
Lethargy OMIM:243500
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Hypotonia-Cystinuria Syndrome
Long eyelashes, Neonatal hypoglycemia, Ptosis OMIM:606407
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Hypoglycemia, Death in childhood OMIM:611126
Holocarboxylase Synthetase Deficiency
Lethargy, Keratoconjunctivitis ORPHA:79242
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Bronchiectasis, Aspiration pneumonia OMIM:618253
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Lethargy ORPHA:79312
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Hypoglycemia, Death in adolescence, Death in childhood, Neonatal death, Neonata... OMIM:619055
Zygomycosis
Diabetes mellitus, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumonia, ... ORPHA:73263
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability OMIM:210900
Lymphangioleiomyomatosis
Recurrent respiratory infections, Retinal hamartoma, Atelectasis, Pneumothorax, Pulmonary infiltr... ORPHA:538
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Timothy Syndrome
Hypoglycemia, Pneumonia, Bronchitis OMIM:601005
Symptomatic Form Of Hfe-Related Hemochromatosis
Lethargy, Hyperglycemia, Diabetes mellitus, Apathy ORPHA:465508
Short-Rib Thoracic Dysplasia 12
Neonatal death, Atelectasis, Epicanthus, Pulmonary hypoplasia OMIM:269860
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia OMIM:613027
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
Hirschsprung Disease
Short stature, Failure to thrive in infancy, Weight loss ORPHA:388
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy, Death in infancy OMIM:604377
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections ORPHA:2314
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Epicanthus, Recurrent hypoglycemia, Downslanted palpebral fissures OMIM:616817
Immunodeficiency, Common Variable, 10
Recurrent viral upper respiratory tract infections, Recurrent pneumonia, Hypoglycemia, Recurrent ... OMIM:615577
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Hypoglycemia OMIM:210210
X-Linked Intellectual Disability, Cabezas Type
Short stature, Obesity, Cachexia ORPHA:85293
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy OMIM:238970
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased proinsulin:insulin ratio ORPHA:94086
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Temple Syndrome
Recurrent hypoglycemia, Type II diabetes mellitus ORPHA:254516
Evans Syndrome
Lethargy ORPHA:1959
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Lethargy, Hypoglycemia, Death in infancy OMIM:608836
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Death in childhood, Emp... OMIM:613177
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Citrullinemia Type I
Lethargy ORPHA:247525
Primary Myelofibrosis
Cachexia ORPHA:824
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy ORPHA:927
Laron Syndrome
Hypoglycemia ORPHA:633
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy ORPHA:27
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:600901
Smith-Kingsmore Syndrome
Downslanted palpebral fissures, Hypoglycemia OMIM:616638
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Pneumonia, Hypoketotic hypoglycemia ORPHA:26793
Seckel Syndrome
Intrauterine growth retardation, Short stature, Cachexia ORPHA:808
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia OMIM:618838
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Ground-glass opacification, Desquamative interstitial pneumonitis, Intraalveola... OMIM:265120
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227650
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Congenital Disorder Of Glycosylation, Type Im
Sparse eyebrow, Death in infancy, Sparse eyelashes, Hypoketotic hypoglycemia OMIM:610768
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy OMIM:611590
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Sim1-Related Prader-Willi-Like Syndrome
Almond-shaped palpebral fissure, Lethargy, Recurrent respiratory infections, Type II diabetes mel... ORPHA:398079
Erythrokeratodermia Variabilis
Short stature, Weight loss ORPHA:317
Reni Syndrome
Hypoglycemia, Ptosis OMIM:617575
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy OMIM:614857
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Death in early adulthood, Slender build, Cachexia, Weight loss OMIM:603041
Acth Deficiency, Isolated
Fasting hypoglycemia OMIM:201400
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia ORPHA:453533
Pituitary Stalk Interruption Syndrome
Death in infancy, Hypoglycemia ORPHA:95496
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Hypoketotic hypoglycemia ORPHA:746
Pseudo-Torch Syndrome 2
Lethargy, Pleural effusion OMIM:617397
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Lethargy, Hypoglycemia, Death in infancy OMIM:617156
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy, Ptosis OMIM:607483
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoglycemia OMIM:620275
Huntington Disease-Like 2
Weight loss OMIM:606438
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Lethargy, Recurrent hypoglycemia, Apathy ORPHA:20
Focal Myositis
Weight loss ORPHA:48918
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Recurrent hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:79644
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227645
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy OMIM:237300
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Hypoglycemia OMIM:615751
22Q11.2 Deletion Syndrome
Telecanthus, Bipolar affective disorder, Epicanthus, Abnormal eyelid morphology, Atelectasis, Abn... ORPHA:567
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents OMIM:603467
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Bipolar affective disorder, Depression, Bradykinesia, Glucose intolerance, Let... ORPHA:254892
Insulin-Resistance Syndrome Type B
Pneumonia, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyp... ORPHA:2298
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Galactokinase Deficiency
Hyperinsulinemia, Hypoglycemia ORPHA:79237
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures ORPHA:199296
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Sparse eyebrow, Abnormal lung morphology, Downslanted palpebral fissures, Neona... ORPHA:35173
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia OMIM:617710
Dopamine Beta-Hydroxylase Deficiency
Bilateral ptosis, Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Lethargy, Ptosis OMIM:608643
Post-Traumatic Pituitary Deficiency
Hypoglycemia ORPHA:95619
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Whipple Disease
Cachexia ORPHA:3452
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Hypoglycemia, Upslanted palpebral fissure, Lethargy, Ptosis OMIM:252010
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Cachexia ORPHA:1969
Magel2-Related Prader-Willi-Like Syndrome
Almond-shaped palpebral fissure, Lethargy, Recurrent respiratory infections, Type II diabetes mel... ORPHA:398069
Hereditary Fructose Intolerance
Lethargy, Reactive hypoglycemia ORPHA:469
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Lethargy, Hypoglycemia ORPHA:199299
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Hypoglycemic seizures OMIM:262600
Cog8-Cdg
Hypoglycemia ORPHA:95428
Pituitary Hormone Deficiency, Combined, 6
Hypoglycemia, Neonatal hypoglycemia OMIM:613986
Kabuki Syndrome 2
Epicanthus, Highly arched eyebrow, Long eyelashes, Long palpebral fissure, Eversion of lateral th... OMIM:300867
Renal Hypoplasia, Bilateral
Lethargy, Glycosuria ORPHA:97362
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Epicanthus, Pulmonary hypoplasia ORPHA:1848
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia ORPHA:348
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces ORPHA:536467
Trisomy 18
Growth delay, Intrauterine growth retardation, Short stature, Cachexia ORPHA:3380
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Methylcobalamin Deficiency Type Cble
Lethargy ORPHA:2169
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood OMIM:618278
Donohue Syndrome
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia OMIM:246200
Chand Syndrome
Atelectasis, Ankyloblepharon ORPHA:1401
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia OMIM:614736
Mast Cell Sarcoma
Weight loss ORPHA:66661
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Upslanted palpebral fissure, Telecanthus, Hypoglycemia, Ptosis OMIM:620224
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia OMIM:616113
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia, Apathy ORPHA:134
Lujo Hemorrhagic Fever
Atelectasis ORPHA:319213
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227646
Dengue Fever
Lethargy ORPHA:99828
Meningococcal Meningitis
Lethargy ORPHA:33475
Congenital Disorder Of Glycosylation, Type Iie
Upslanted palpebral fissure, Death in infancy, Hypoglycemia, Short palpebral fissure OMIM:608779
Scrub Typhus
Lethargy ORPHA:83317
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Cachexia ORPHA:109
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections ORPHA:258
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Epicanthus OMIM:277380
Orthostatic Hypotension 1
Neonatal hypoglycemia, Ptosis OMIM:223360
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Recurrent respiratory infections, Atelectasis, Depression, Upslanted palpebral ... ORPHA:534
Follicular Lymphoma
Weight loss ORPHA:545
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Pleural effusion, Recurrent pneumonia, Air bronchogram OMIM:306400
Isolated Succinate-Coq Reductase Deficiency
Intrauterine growth retardation, Severe short stature, Proportionate short stature, Weight loss ORPHA:3208
Perry Syndrome
Weight loss ORPHA:178509
Glucocorticoid Deficiency 1
Recurrent hypoglycemia OMIM:202200
Schwartz-Jampel Syndrome
Death in infancy, Short stature, Cachexia, Decreased body weight ORPHA:800
Bone Dysplasia, Lethal Holmgren Type
Severe short-limb dwarfism, Failure to thrive, Rhizomelia, Weight loss ORPHA:1842
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Lethargy, Death in childhood OMIM:618321
Fanconi-Bickel Syndrome
Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp... ORPHA:2088
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Downslanted palpebral fissures, Neonatal hypoglycemia ORPHA:457485
Juvenile Huntington Disease
Weight loss ORPHA:248111
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Depression ORPHA:99832
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Death in infancy, Hypoglycemia OMIM:619355
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Epicanthus, Palpebral edema, Death in adolescence, Lethargy OMIM:614866
Multiple Acyl-Coa Dehydrogenase Deficiency
Telecanthus, Hypoglycemia ORPHA:26791
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Icf Syndrome
Abnormality of chromosome stability ORPHA:2268
Pleural Mesothelioma
Weight loss ORPHA:50251
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis, Ptosis ORPHA:365
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Depression, Recurrent hypoglycemia, Neonatal death, Hyperglycemia, Ptosis OMIM:124000
Biotinidase Deficiency
Lethargy, Conjunctivitis OMIM:253260
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia ORPHA:397590
Trichinellosis
Lethargy, Conjunctival hyperemia, Conjunctivitis, Apathy ORPHA:863
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Downslanted palpebral fissures, Hypoglycemia ORPHA:457279
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Keratoconjunctivitis sicca, Hypoglycemia, Thick eyebrow, Ptosis OMIM:616007
Pancreatic And Cerebellar Agenesis
Death in infancy, Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Pfapa Syndrome
Weight loss ORPHA:42642
Silver-Russell Syndrome 1
Fasting hypoglycemia OMIM:180860
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Glycogen Storage Disease Ia
Xanthelasma, Hypoglycemia, Fasting hypoglycemia OMIM:232200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Holoprosencephaly
Epicanthus, Diabetes mellitus, Hypoglycemia, Highly arched eyebrow, Synophrys, Upslanted palpebra... ORPHA:2162
D-Glyceric Aciduria
Hypoglycemia OMIM:220120
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia OMIM:617600
Citrullinemia Type Ii
Lethargy, Mania ORPHA:247585
Glycerol Kinase Deficiency
Lethargy, Hypoglycemia OMIM:307030
Histiocytoid Cardiomyopathy
Lethargy, Hypoglycemia, Pulmonary edema ORPHA:137675
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Immunodeficiency 59 And Hypoglycemia
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Hypog... OMIM:233600
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Sotos Syndrome
Sparse eyebrow, Glucose intolerance, Downslanted palpebral fissures, Neonatal hypoglycemia OMIM:117550
Liposarcoma
Weight loss ORPHA:69078
Glutaric Acidemia I
Hypoglycemia OMIM:231670
Medulloblastoma
Neoplasm of the lung, Lethargy ORPHA:616
Cirrhosis, Familial
Lethargy OMIM:215600
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Cap Polyposis
Weight loss ORPHA:160148
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Recurrent lower respiratory tract infections, Hypoglycemia OMIM:618005
Holocarboxylase Synthetase Deficiency
Lethargy OMIM:253270
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Lethargy, Death in childhood OMIM:557000
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy OMIM:201100
Bullous Pemphigoid
Weight loss ORPHA:703
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Multiple pulmonary cysts, Epicanthus, Hypoglycemia, Neonatal hypoglycemia OMIM:619418
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Epicanthus, Hypoglycemia, Synophrys, Downslanted palpebral fissures, Ptosis OMIM:301066
Juvenile Polyposis Of Infancy
Short stature, Cachexia ORPHA:79076
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability OMIM:300514
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Neonatal hypoglycemia ORPHA:445038
Mirage Syndrome
Hypoglycemia, Aspiration pneumonia OMIM:617053
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Methylmalonic Aciduria, Cblb Type
Lethargy OMIM:251110
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Hypoglycemia ORPHA:79282
Cockayne Syndrome
Severe short stature, Cachexia, Postnatal growth retardation, Growth delay, Delayed puberty ORPHA:191
Biotinidase Deficiency
Lethargy, Conjunctivitis ORPHA:79241
Pituitary Apoplexy
Hypoglycemia, Ptosis ORPHA:95613
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Nijmegen Breakage Syndrome
Short stature, Cachexia ORPHA:647
Meningioma
Chromosomal breakage induced by ionizing radiation ORPHA:2495
Encephalitis Lethargica
Lethargy ORPHA:83600
Relapsing Polychondritis
Atelectasis, Conjunctivitis ORPHA:728
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Weight loss ORPHA:171876
Amoebiasis Due To Free-Living Amoebae
Respiratory tract infection, Lethargy, Conjunctival hyperemia, Pneumonia ORPHA:68
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemia, Hypoglycemic seizures ORPHA:480864