Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
paired-like homeobox 2a
Synonyms:
Pmx2a,  Arix,  Px2a,  Pmx2

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 Phox2a 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 Phox2a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Fibrosis Of Extraocular Muscles
Optic nerve hypoplasia ORPHA:45358
Fibrosis Of Extraocular Muscles, Congenital, 2
OMIM:602078

The table below shows human diseases predicted to be associated to Phox2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Growth delay, Short stature, Decreased serum insulin-like growth factor 1, Hypog... ORPHA:314802
Acid-Labile Subunit Deficiency
Delayed puberty, Mild postnatal growth retardation, Insulin insensitivity, Decreased serum insuli... OMIM:615961
Isolated Growth Hormone Deficiency, Type Ia
Growth delay, Prolonged neonatal jaundice, Severe short stature, Decreased serum insulin-like gro... OMIM:262400
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Severe postnatal growth retardation, Impaired growth-hormone response to insu... OMIM:262700
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Short Stature Due To Ghsr Deficiency
Delayed puberty, Short stature, Growth delay, Decreased serum insulin-like growth factor 1, Hypog... ORPHA:314811
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Hypoglycemia, Severe short stature OMIM:223500
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Maturity-onset diabetes of the young, Overweight OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypothyroidism, Congenital, Nongoitrous, 7
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Growth delay, Short stat... OMIM:618573
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia ORPHA:366
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, ... ORPHA:276608
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Lower cranial nerve dysfunction, Abnormal cranial nerve phys... ORPHA:90117
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Ketotic hypoglycemia, Lethargy, Respiratory distress ORPHA:26792
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Apneic episodes in infancy, Lethargy OMIM:610006
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet hyperplasia,... ORPHA:276580
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Glycogen Storage Disease Vi
Postnatal growth retardation, Hypoglycemia OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hypogl... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycemia, Recurrent ... ORPHA:276556
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Hypoadrenocorticism, Familial
Adrenal hypoplasia, Apnea, Hypoglycemia, Cyanosis, Adrenal insufficiency OMIM:240200
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Short stature, Glycosuria, Lethargy, Postprandial hyperglycemia ORPHA:2089
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Riboflavin Deficiency
Hypoglycemia, Lethargy OMIM:615026
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia ORPHA:446
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin... ORPHA:97279
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hypoglycemia, Lethargy, Hyperventilation OMIM:229700
Perching Syndrome
Cyanosis, Respiratory distress OMIM:617055
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Neonatal hypoglycemia, Premature skin wrinkling, Anterior hypopituitarism, Growt... ORPHA:631
Chronic Pneumonitis Of Infancy
Hyperventilation, Tachypnea, Intercostal retractions, Respiratory distress ORPHA:91359
Severe Acute Respiratory Syndrome
Hypoxemia, Diabetes mellitus, Dyspnea, Respiratory distress ORPHA:140896
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia OMIM:616111
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Abnormal circulating insulin concentration, Glycosuria, H... ORPHA:552
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Short stature, Hyperglycemia, Diabeti... OMIM:262190
Infantile Liver Failure Syndrome 2
Hypoglycemia, Jaundice, Lethargy OMIM:616483
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Hypoglycemia, Lethargy OMIM:618120
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Lethargy OMIM:246900
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis OMIM:302000
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Respiratory distress OMIM:614741
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Lethargy, Central apnea ORPHA:71277
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Short stature, Neonatal hypoglycemia, Postnatal growth retardation, Hypoglycemia ORPHA:231140
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Apnea, Impaired gluconeogenesis, Hypoglycemia, Cyanosis OMIM:261680
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Lethargy, Hypogonadism, Abnormality of endocrine pancreas physiology ORPHA:79230
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Glucocorticoid Deficiency 3
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... OMIM:609197
Laryngotracheal Angioma
Apnea, Cyanosis, Intercostal retractions, Respiratory distress ORPHA:137935
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Diabetes mellitus, Lethargy ORPHA:49827
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Hypoglycemia, Apnea OMIM:619048
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Hypoglycemia ORPHA:231147
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Dyspnea, Increased circulating procalcitonin concentration, Hypoxemia, Tach... ORPHA:36238
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Lethargy, Adrenal insufficiency OMIM:619386
Developmental And Epileptic Encephalopathy 40
Intrauterine growth retardation, Lethargy OMIM:617065
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Depression, Pituitary hypothyroidism, Thyroid hypopl... ORPHA:99832
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Respiratory distress OMIM:267450
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Short stature, Dorsocervical fat pad, Hyperinsulinemic hypogl... OMIM:616033
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Evans Syndrome
Jaundice, Petechiae, Dyspnea, Bruising susceptibility, Lethargy ORPHA:1959
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Respiratory distress ORPHA:141152
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Glycosur... ORPHA:263455
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism... OMIM:616113
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Tetanus
Respiratory distress, Cranial nerve paralysis, Abnormal autonomic nervous system physiology, Tach... ORPHA:3299
Carnitine Deficiency, Systemic Primary
Respiratory distress, Lethargy, Recurrent hypoglycemia, Impaired gluconeogenesis OMIM:212140
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Hypoketotic hypoglycemia OMIM:600649
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:606176
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Hyperinsulinemia ORPHA:329249
Acth Deficiency, Isolated
Jaundice, Fasting hypoglycemia, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency, Decre... OMIM:201400
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Birth length less than 3r... OMIM:300148
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ... OMIM:616329
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Lethargy, Respiratory distress OMIM:613561
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Apnea, Lethargy OMIM:210200
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Glycogen Storage Disease Ixb
Growth delay, Hypoglycemia, Short stature OMIM:261750
Classic Galactosemia
Delayed puberty, Jaundice, Depression, Decreased serum insulin-like growth factor 1, Hypoglycemia... ORPHA:79239
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Lethargy OMIM:274270
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Apathy, Depression, Respiratory distress ORPHA:240085
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode OMIM:610992
Hemochromatosis, Neonatal
Intrauterine growth retardation, Prolonged neonatal jaundice, Hypoglycemia OMIM:231100
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Fasting hypoglycemia, Hypoketotic hypoglycemia, Cyanosis, Lethargy ORPHA:159
Hereditary Central Diabetes Insipidus
Growth delay, Lethargy, Diabetes insipidus ORPHA:30925
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Prolonged neonatal jaundice, Leth... ORPHA:95717
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia ORPHA:364
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Propionic Acidemia
Hypoglycemia, Short stature, Apnea, Tachypnea, Lethargy OMIM:606054
Hirschsprung Disease, Susceptibility To, 3
Long-segment aganglionic megacolon, Aganglionic megacolon, Total colonic aganglionosis OMIM:613711
2P21 Microdeletion Syndrome
Growth delay, Hypoglycemia, Hypogonadism ORPHA:163693
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Hyperlysinuria With Hyperammonemia
Growth delay, Lethargy OMIM:238750
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cyanosis, Respiratory distress OMIM:263000
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Neonatal death, Lethargy OMIM:618232
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal insufficiency, Hy... OMIM:617872
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Stuve-Wiedemann Syndrome 2
Intrauterine growth retardation, Stillbirth, Neonatal death, Respiratory distress OMIM:619751
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Respiratory distress ORPHA:2596
Idiopathic Neonatal Atrial Flutter
Tachypnea, Maternal diabetes, Respiratory distress ORPHA:45452
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... OMIM:615962
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia, Lethargy ORPHA:2394
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter, Lethargy, Growth delay OMIM:274400
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Obesity Due To Sim1 Deficiency
Abnormal autonomic nervous system physiology, Postural hypotension with compensatory tachycardia ORPHA:369873
Cardiomyopathy, Dilated, 2H
Tachypnea OMIM:620203
Bardet-Biedl Syndrome 16
Short stature, Hypogonadism, Respiratory distress OMIM:615993
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Lethargy ORPHA:156
Diarrhea 13
Recurrent hypoglycemia OMIM:620357
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Exertional dyspnea, Lethargy ORPHA:42
Temple Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Precocious p... ORPHA:254516
Propionic Acidemia
Hypoglycemia ORPHA:35
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Adrenal hypoplasia, Prolonged neonatal jaundice, De... ORPHA:199296
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Dyspnea, Respiratory distress ORPHA:1832
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Premature skin wrinkling OMIM:617950
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Glycogen Storage Disease Ixc
Growth delay, Hypoglycemia, Postnatal growth retardation, Fasting hypoglycemia OMIM:613027
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Proportionate short statu... ORPHA:71212
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Short stature, Hypoglycemia, Postnatal growth retardation ORPHA:231137
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Episodic tachypnea OMIM:615160
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Respiratory distress, Short stature, Growth delay, Lethargy OMIM:250940
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Laron Syndrome
Delayed puberty, Abnormality of the endocrine system, Prematurely aged appearance, Severe short s... ORPHA:633
Glycogen Storage Disease Iii
Short stature, Hypoglycemia OMIM:232400
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Apnea, Hyperglycemia, Cyanosis, Lethargy ORPHA:391673
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
High Altitude Pulmonary Edema
Dyspnea, Hypoxemia, Orthopnea, Tachypnea, Cyanosis ORPHA:330012
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Thyroi... ORPHA:95716
Glycine Encephalopathy 1
Lethargy OMIM:605899
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Hypoglycemia, Hypogonadotropic hypogonadism, Short stature ORPHA:48431
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Lethargy OMIM:618225
Surfactant Metabolism Dysfunction, Pulmonary, 4
Tachypnea OMIM:300770
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Lethargy, Respiratory distress ORPHA:289916
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Hypoglycemia, Short stature, Growth delay ORPHA:369
Glucocorticoid Deficiency 1
Abnormal circulating renin, Decreased circulating cortisol level, Abnormal circulating aldosteron... OMIM:202200
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Severe postnatal growth retardation, Severe intrauterine growth ret... ORPHA:73272
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Silver-Russell Syndrome 2
Short stature, Neonatal hypoglycemia, Intrauterine growth retardation OMIM:618905
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia, Lethargy OMIM:201450
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy OMIM:610498
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Decreased circulating ... OMIM:614736
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Muscular Hypertonia, Lethal
Respiratory distress OMIM:254120
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Congenital Pulmonary Lymphangiectasia
Growth delay, Cyanosis, Respiratory distress ORPHA:2414
Maple Syrup Urine Disease, Type Ia
Hypoglycemia, Lethargy OMIM:248600
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Joubert Syndrome 7
Tachypnea, Central apnea, Episodic tachypnea OMIM:611560
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Mitochondrial Complex I Deficiency, Nuclear Type 5
Growth delay, Apnea, Lethargy OMIM:618226
Meconium Aspiration Syndrome
Intrauterine growth retardation, Hypoxemia, Maternal diabetes, Respiratory distress ORPHA:70588
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:95496
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Fasting hypoglycemia, Respiratory distress, Dyspnea, Intermittent hyperven... ORPHA:348
Amyotrophic Lateral Sclerosis 4, Juvenile
Pallor of dorsal columns of the spinal cord, Atrophy of the spinal cord, Degeneration of anterior... OMIM:602433
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature OMIM:619489
Glycogen Storage Disease Ixa1
Growth delay, Hypoglycemia OMIM:306000
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:94086
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea OMIM:616414
Leukoencephalopathy With Vanishing White Matter 1
Primary gonadal insufficiency, Lethargy, Decreased circulating progesterone OMIM:603896
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Succinic Acidemia
Respiratory distress OMIM:600335
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Tachypnea, Lethargy OMIM:201475
Mitochondrial Complex I Deficiency, Nuclear Type 6
Apnea, Lethargy OMIM:618228
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Hypoglycemia, Neonatal death, Decreased circulating cortisol level OMIM:618835
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Hypoglycemia OMIM:618958
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Hypoglycemia, Neonatal death, Decreased circulating cortisol level OMIM:618839
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Short stature, Respiratory distress OMIM:300580
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Lethargy, Respiratory distress OMIM:251000
Holocarboxylase Synthetase Deficiency
Growth delay, Tachypnea, Lethargy, Respiratory distress ORPHA:79242
Pyruvate Dehydrogenase Deficiency
Dyspnea, Growth delay, Intrauterine growth retardation, Tachypnea, Lethargy ORPHA:765
Multifocal Atrial Tachycardia
Hypothyroidism, Tachypnea, Dyspnea, Lethargy ORPHA:3282
Crigler-Najjar Syndrome
Jaundice, Lethargy ORPHA:205
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Atypical Rett Syndrome
Sudden episodic apnea, Abnormal autonomic nervous system physiology, Episodic tachypnea ORPHA:3095
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Abnormal circulating hormone concentration... ORPHA:280356
Pontocerebellar Hypoplasia, Type 6
Apnea, Lethargy OMIM:611523
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Glucose intolerance, Impaired glucose tolerance, Acrocyanosis OMIM:614407
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test, Severe short stature, Respiratory distress OMIM:245590
Severe Canavan Disease
Lethargy ORPHA:314911
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Reduced subcutaneous adipose tissue, Hyperglycemia, Type II ... OMIM:604367
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Neuralgic Amyotrophy
Short stature, Acrocyanosis ORPHA:2901
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hypoketotic hypoglycemia, Respiratory distress, Tachypnea, Lethargy, Episodic tachypnea ORPHA:26793
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Aganglionic megacolon, Cerebellar vermis hypoplasia, Apnea, Tachypnea ORPHA:2318
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells, Pe... OMIM:604320
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Jaundice, Respiratory distress, Intrauterine growth retardation, Hypoglycemia, Lethargy OMIM:617156
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Immunodeficiency 95
Respiratory distress OMIM:619773
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia OMIM:620137
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Atrophy/Degeneration affecting the brainstem, Tachypnea, Cerebellar atrophy, Optic disc pallor OMIM:615838
Isolated Atp Synthase Deficiency
Respiratory distress, Hypothyroidism, Short stature, Hypogonadism, Lethargy ORPHA:254913
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Decreased thyroid-stimulating hormone level, Inappropriate antidiuretic hormo... ORPHA:226307
Tenorio Syndrome
Apnea, Hypoglycemia, Hypoinsulinemia OMIM:616260
Breath-Holding Spells
Cyanosis OMIM:607578
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Central Diabetes Insipidus
Depression, Lethargy, Diabetes insipidus ORPHA:178029
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Intrauterine growth retardation, Hypoglycemia, Neonatal death, Growth delay OMIM:245400
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:464453
Malonyl-Coa Decarboxylase Deficiency
Short stature, Hypoglycemia OMIM:248360
Restrictive Dermopathy 2
Intrauterine growth retardation, Cyanosis, Respiratory distress OMIM:619793
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Methylmalonic Aciduria, Cblb Type
Hypoglycemia, Lethargy, Respiratory distress OMIM:251110
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Severe postnatal growth retardation, Proportionate short stature, Hypothyroidism... ORPHA:391408
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Hereditary Pulmonary Alveolar Proteinosis
Tachypnea, Respiratory distress ORPHA:264675
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hypoglycemia, Lethargy OMIM:212138
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Exertional dyspnea, Cyanosis OMIM:250800
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Tachypnea, Cyanosis, Nasal flaring ORPHA:70587
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea, Hypoglycemia, Jaundice, Lethargy OMIM:615751
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Lethargy, Respiratory distress ORPHA:79312
Juvenile Neuronal Ceroid Lipofuscinosis
Episodic tachypnea, Apnea, Cerebellar atrophy, Optic disc pallor ORPHA:79264
Solitary Fibrous Tumor
Hypoglycemia, Hypoinsulinemia, Recurrent hypoglycemia ORPHA:2126
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Glucocorticoid Deficiency 2
Abnormal circulating renin, Decreased circulating cortisol level, Recurrent hypoglycemia, Increas... OMIM:607398
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Hypoglycemia, Apnea OMIM:618253
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:1302
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Short stature, Primary gonadal insufficiency, Abnormality of th... ORPHA:1227
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Lethargy OMIM:602390
Multiple Mitochondrial Dysfunctions Syndrome 7
Apnea, Hyperglycemia, Hypoglycemia, Cyanosis, Lethargy OMIM:620423
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Abnormal radi... ORPHA:226316
Cyclic Vomiting Syndrome
Growth delay, Lethargy OMIM:500007
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Congenital Disorder Of Glycosylation, Type Ig
Hypoglycemia, Rhizomelia, Lethargy, Respiratory distress OMIM:607143
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress ORPHA:77260
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Donohue Syndrome
Postnatal growth retardation, Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hypergl... OMIM:246200
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Postnatal growth retardation, Respiratory distress OMIM:616733
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Tachypnea, Respiratory distress OMIM:614299
Cholera
Hypoglycemia, Tachypnea, Palmoplantar cutis laxa, Lethargy, Hyperventilation ORPHA:173
Bronchopulmonary Dysplasia
Hyperoxemia, Dyspnea, Central apnea, Respiratory distress ORPHA:70589
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Short stature, Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy ORPHA:35689
Combined Oxidative Phosphorylation Deficiency 10
Intrauterine growth retardation, Hypoglycemia OMIM:614702
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Nonketotic hypoglycemia, Apnea, Recurrent hypoglycemia, Tachypnea, Apathy, Lethargy ORPHA:20
Congenital Laryngeal Web
Short stature, Respiratory distress ORPHA:2374
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Lethargy OMIM:143880
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Hypothyroidism, Short stature, Growth delay, Recurrent hypoglycemia, Intrauterin... OMIM:616817
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Insulin resistance, Hyperinsulinemia OMIM:617885
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Respiratory distress, Glycosuria, Neonatal death, Hypoglycemia OMIM:231680
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Hypothyroidism, Hyperglycemia, Hypogonadotropic hypogonadism, Diabetes mellit... ORPHA:465508
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Pure Autonomic Failure
Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:441
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Hypoketotic hypoglycemia OMIM:255120
Surfactant Metabolism Dysfunction, Pulmonary, 1
Dyspnea, Apnea, Neonatal death, Tachypnea, Cyanosis OMIM:265120
Primary Pulmonary Hypoplasia
Hypoxemia, Apnea, Intrauterine growth retardation, Tachypnea, Cyanosis ORPHA:2257
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating ACTH concentration, Hypoglycemia, Adrenocorticotropic h... ORPHA:199299
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy ORPHA:28
Central Neurocytoma
Depression, Lethargy ORPHA:73256
Aromatic L-Amino Acid Decarboxylase Deficiency
Increased circulating prolactin concentration, Hypoglycemia, Short stature ORPHA:35708
Hereditary Fructose Intolerance
Growth delay, Jaundice, Reactive hypoglycemia, Lethargy ORPHA:469
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation, Hypoglycemia, Intrauterine growth retardation OMIM:620275
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Hsd10 Disease, Infantile Type
Hypoglycemia, Cyanosis ORPHA:391428
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Hyperinsulinemia ORPHA:66518
Idiopathic Intracranial Hypertension
Depression, Lethargy ORPHA:238624
N-Acetylglutamate Synthase Deficiency
Tachypnea, Lethargy, Respiratory distress OMIM:237310
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology OMIM:611890
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Respiratory distress, Dyspnea, Hypoxemia, Apnea, Neonatal death, Tachypnea, C... OMIM:610921
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Depression, Pituitary hypothyroidism, Increased pitu... ORPHA:90674
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Respiratory distress ORPHA:927
Melkersson-Rosenthal Syndrome
Cranial nerve paralysis, Facial palsy, Abnormal autonomic nervous system physiology ORPHA:2483
Combined Oxidative Phosphorylation Deficiency 59
Ketotic hypoglycemia, Apnea, Apathy OMIM:620646
Citrullinemia Type I
Tachypnea, Lethargy ORPHA:247525
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Exertional dyspnea, Cyanosis ORPHA:98913
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Tachypnea, Lethargy OMIM:614857
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Erythema, Respiratory distress ORPHA:100057
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Perianal erythema, Short stature, Hypogonadism, Lethargy, Decreased serum test... OMIM:201100
Congenital Myopathy 10A, Severe Variant
Respiratory distress OMIM:614399
Laryngomalacia
Respiratory distress OMIM:150280
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:79237
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Respiratory distress ORPHA:240103
Malaria
Respiratory distress ORPHA:673
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Neonatal hypoglycemia, Decreased response to growth hormone stimula... OMIM:606407
Pancreatic And Cerebellar Agenesis
Severe intrauterine growth retardation, Reduced subcutaneous adipose tissue, Apnea, Hyperglycemia... OMIM:609069
Asbestos Intoxication
Exertional dyspnea, Dyspnea, Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Rabson-Mendenhall Syndrome
Premature graying of hair, Increased circulating androgen concentration, Increased serum testoste... ORPHA:769
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Irregular respiration, Lethargy, Respiratory distress OMIM:604377
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy, Hypoketotic hypoglycemia OMIM:609015
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Growth delay, Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Hypoglycemia, Postnatal growth retardation, Intrauterine growth retardation ORPHA:397590
Thyroid Lymphoma
Respiratory distress, Dyspnea, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter ORPHA:97285
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hypoglycemia OMIM:616355
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Glycosuria, Hypoglycemia, Diabetes mellitus OMIM:616026
Recurrent Respiratory Papillomatosis
Tachypnea, Respiratory distress ORPHA:60032
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Increased circulating prolactin concentration, Adrenocortical adenoma, Pancreatic is... OMIM:131100
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Congenital ... ORPHA:226313
Joubert Syndrome 2
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... OMIM:608091
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short stature, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea, Cyanosis, Maternal diabetes ORPHA:860
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Isolated Complex I Deficiency
Intrauterine growth retardation, Hypoglycemia, Diabetes mellitus, Lethargy ORPHA:2609
Cog8-Cdg
Spontaneous hematomas, Hypoglycemia ORPHA:95428
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Joubert Syndrome
Cerebellar vermis hypoplasia, Apnea, Aganglionic megacolon, Episodic tachypnea ORPHA:475
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Muscular Dystrophy, Congenital, With Or Without Seizures
Type I diabetes mellitus, Respiratory distress OMIM:620166
Biotinidase Deficiency
Optic atrophy, Tachypnea, Apnea, Diffuse cerebellar atrophy OMIM:253260
Meningococcal Meningitis
Petechiae, Increased circulating procalcitonin concentration, Purpura, Lethargy ORPHA:33475
Joubert Syndrome 1
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... OMIM:213300
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Pleural Mesothelioma
Dyspnea, Respiratory distress ORPHA:50251
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Laryngotracheoesophageal Cleft
Cyanosis, Dyspnea ORPHA:2004
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Hypoglycemia, Hyperglycemia OMIM:615453
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Acute Lung Injury
Tachypnea, Respiratory distress ORPHA:178320
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Auriculocondylar Syndrome 2A
Apnea, Respiratory distress OMIM:614669
Susac Syndrome
Apathy, Lethargy ORPHA:838
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia, Dyspnea ORPHA:230
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy OMIM:619064
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis, Dyspnea OMIM:610910
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hypoglycemia, Apnea, Lethargy OMIM:608836
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia, Lethargy OMIM:210210
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Intrauterine growth retardation, Hypoglycemia OMIM:617710
Serotonin Syndrome
Tachypnea, Abnormality of the autonomic nervous system ORPHA:43116
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Renal Hypoplasia, Bilateral
Short stature, Glycosuria, Lethargy, Growth delay ORPHA:97362
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Lethargy OMIM:611590
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrost... OMIM:250790
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Slc35A1-Cdg
Hypoxemia, Subcutaneous hemorrhage, Respiratory distress ORPHA:238459
Beta-Ketothiolase Deficiency
Apathy, Tachypnea, Hypoglycemia, Hyperglycemia ORPHA:134
Tricuspid Atresia
Cyanosis ORPHA:1209
Joubert Syndrome 3
Central apnea, Episodic tachypnea OMIM:608629
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Hypoglycemia, Decreased response to growth hormone stimulation tes... OMIM:615577
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Central hypothyroidism, Absence of pubertal developmen... ORPHA:398079
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrauterine growth retardation, Hypoglycemia, Jaundice, Postnatal growth retardation OMIM:617093
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy OMIM:250620
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreased circulating cortis... ORPHA:90790
Methylcobalamin Deficiency Type Cble
Intrauterine growth retardation, Postnatal growth retardation, Lethargy ORPHA:2169
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Jaundice OMIM:617049
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Exertional dyspnea, Acrocyanosis ORPHA:2032
Autosomal Dominant Progressive External Ophthalmoplegia
Bradykinesia, Exertional dyspnea, Glucose intolerance, Depression, Bipolar affective disorder, Hy... ORPHA:254892
Scrub Typhus
Dyspnea, Lethargy ORPHA:83317
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Lethargy, Hypoketotic hypoglycemia ORPHA:746
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea ORPHA:2872
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Mitochondrial Complex I Deficiency, Nuclear Type 1
Growth delay, Apnea, Hypoglycemia, Cyanosis, Lethargy OMIM:252010
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Silver-Russell Syndrome 1
Intrauterine growth retardation, Decreased response to growth hormone stimulation test, Fasting h... OMIM:180860
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Respiratory distress ORPHA:261304
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Myasthenia Gravis
Dyspnea, Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnor... ORPHA:589
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Congenital Heart Block
Intrauterine growth retardation, Cyanosis ORPHA:60041
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress ORPHA:79097
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Cyanotic episode ORPHA:284417
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Stt3B-Cdg
Intrauterine growth retardation, Respiratory distress ORPHA:370924
Smith-Kingsmore Syndrome
Hypoglycemia, Rhizomelia OMIM:616638
Histiocytoid Cardiomyopathy
Tachypnea, Hypoglycemia, Cyanosis, Lethargy ORPHA:137675
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia ORPHA:363400
Anaplastic Thyroid Carcinoma
Respiratory distress, Anaplastic thyroid carcinoma, Dyspnea, Nodular goiter, Goiter ORPHA:142
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Dyspnea, Short stature, Growth delay, Decreased serum insulin-like growth factor... OMIM:614921
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Respiratory distress, Growth delay, Intrauterine growth retardation, Hypoglycemia, Leth... ORPHA:79282
Choanal Atresia
Cyanosis, Respiratory distress ORPHA:137914
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Paradoxical respiration, Respiratory distress OMIM:620011
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Neonatal death OMIM:620300
Tetrasomy 5P
Postnatal growth retardation, Cyanosis, Respiratory distress ORPHA:3309
Acute Interstitial Pneumonia
Hypoxemia, Tachypnea, Cyanosis, Dyspnea ORPHA:79126
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress ORPHA:254875
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy OMIM:238970
Congenital Disorder Of Glycosylation, Type Ix
Intrauterine growth retardation, Respiratory distress OMIM:615597
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea OMIM:613320
Aica-Ribosiduria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Leprosy
Abnormal seventh cranial physiology, Abnormal autonomic nervous system physiology, Enlarged perip... ORPHA:548
Reni Syndrome
Hypothyroidism, Hypoglycemia, Hypogonadism, Adrenal insufficiency OMIM:617575
Isovaleric Acidemia
Lethargy OMIM:243500
Glycerol Kinase Deficiency
Short stature, Growth delay, Adrenocortical hypoplasia, Hypoglycemia, Lethargy, Adrenal insuffici... OMIM:307030
Ogden Syndrome
Postnatal growth retardation, Lethargy ORPHA:276432
Familial Nasal Acilia
Dyspnea, Respiratory distress ORPHA:922
Dengue Fever
Petechiae, Bruising susceptibility, Lethargy ORPHA:99828
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intrauterine growth retardation, Neonatal hypoglycemia, Neonatal death, Hypoglycemia OMIM:619055
Mirage Syndrome
Petechiae, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Short stature, Intrauterine growth... OMIM:617053
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Neonatal hypoglycemia, Increased serum testo... ORPHA:90791
Mandibuloacral Dysplasia
Postnatal growth retardation, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, In... ORPHA:2457
Double Outlet Right Ventricle
Hypoparathyroidism, Short stature, Aplasia/Hypoplasia of the thymus, Tachypnea, Cyanosis ORPHA:3426